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ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents

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Greeley, Siri Atma W., Polak, Michel, Njølstad, Pål R., Barbetti, Fabrizio, Williams, Rachel, Castano, Luis, Raile, Klemens, Chi, Dung Vu +3 more·2022·Pediatric Diabetes
DOI 10.1111/pedi.13426PMC PMC10107883
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  • Genetic screening (i.e., next-generation sequencing) is increasingly available and cost-effective.

    “Genetic screening (i.e., next-generation sequencing) is increasingly available and cost-effective (152).”

    From 2. Diagnosis and classification of diabetes: standards of care in diabetes-2025 (2025) · cites this paper as [152]

    In ‘Selecting candidates for molecular testing,’ the guidelines say genetic testing is available in many countries and that NGS has a lower cost per gene. They also say NGS panels remain expensive and that cost-effectiveness depends on the condition and selection of patients; the claim presents cost-effectiveness without those qualifications. (LLM, conf=0.87)

    Experimental — accuracy not yet measured

  • MODY is inherited in an autosomal dominant pattern with abnormalities in at least 14 genes on different chromosomes identified to date.

    “It is inherited in an autosomal dominant pattern with abnormalities in at least 14 genes on different chromosomes identified to date (152).”

    From 2. Diagnosis and classification of diabetes: standards of care in diabetes-2025 (2025) · cites this paper as [152]

    The section on autosomal dominant familial mild hyperglycemia or diabetes (MODY; page unavailable) says known MODY subtypes involve dominantly acting mutations and that at least 14 genes have been reported to cause a MODY-like phenotype. It does not establish that those genes are all on different chromosomes, and it qualifies the count as genes reported to cause a MODY-like phenotype. (LLM, conf=0.82)

    Experimental — accuracy not yet measured

  • Monogenic defects that cause beta-cell dysfunction or insulin resistance syndromes are present in a small fraction of people with diabetes (<5%).

    “Monogenic defects that cause b-cell dysfunction (e.g., neonatal diabetes and MODY) or insulin resistance syndromes (e.g., monogenic lipodystrophies) are present in a small fraction of people with diabetes (<5%) (152).”

    From 2. Diagnosis and classification of diabetes: standards of care in diabetes-2025 (2025) · cites this paper as [152]

    The Specific Subtypes section identifies β-cell dysfunction and severe insulin resistance as causes of monogenic diabetes in children, and the Monogenic Lipodystrophies section describes an insulin-resistant example. The MODY section calls monogenic diabetes uncommon but estimates 2.5%–6% of pediatric diabetes cases; it does not establish a <5% prevalence among people with diabetes generally. Page numbers are unavailable in our copy. (LLM, conf=0.88)

    Experimental — accuracy not yet measured

  • Individuals with maturity-onset diabetes of the young due to HNF1A and HNF4A mutations can be treated with low-dose sulfonylurea therapy but may ultimately require insulin therapy.

    “Individuals with maturity-onset diabetes of the young due to HNF1A and HNF4A mutations can be treated with low-dose sulfonylurea therapy but may ultimately require insulin therapy (234)”

    From 9. Pharmacologic Approaches to Glycemic Treatment: Standards of Care in Diabetes—2025 (2025) · cites this paper as [234]

    The section on HNF1A-MODY and HNF4A-MODY (page unavailable) recommends a low initial sulfonylurea dose and says patients can remain on low doses for decades. It does not say they may ultimately require insulin therapy; instead, it says sulfonylureas usually provide better glycemic management than insulin. (LLM, conf=0.88)

    Experimental — accuracy not yet measured

  • Individuals with neonatal diabetes due to KCNJ22 and ABCC8 mutations can be treated with high-dose sulfonylureas, while those with INS, GATA6, EIF2AK3, and FOXP3 mutations require insulin therapy.

    “Individuals with neonatal diabetes due to KCNJ22 and ABCC8 mutations can be treated with high-dose sulfonylureas, while those with INS, GATA6, EIF2AK3, and FOXP3 mutations require insulin therapy (234).”

    From 9. Pharmacologic Approaches to Glycemic Treatment: Standards of Care in Diabetes—2025 (2025) · cites this paper as [234]

    The section on KATP-channel neonatal diabetes identifies KCNJ11—not the claim’s KCNJ22—and ABCC8, and says about 90% of affected children can switch from insulin to sulfonylureas, often at doses higher than those used for adults with type 2 diabetes (page unavailable). The INS subsection says affected individuals are insulin dependent. Our copy links GATA6, EIF2AK3, and FOXP3 to neonatal diabetes but does not establish the claimed insulin-therapy requirement for all three; its IPEX section discusses other treatment for FOXP3-related disease. (LLM, conf=0.88)

    Experimental — accuracy not yet measured

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  1. [2]Greeley SA, John PM, Winn AN, et al. The cost‐effectiveness of personalized genetic medicine: the case of genetic testing in neonatal diabetes. Diabetes Care. 2011; 34(3): 622‐ 627. doi: 10.2337/dc10-1616 21273495 PMC3041194 · DOI
  2. [3]Naylor RN, John PM, Winn AN, et al. Cost‐effectiveness of MODY genetic testing: translating genomic advances into practical health applications. Diabetes Care. 2014; 37(1): 202‐ 209. doi: 10.2337/dc13-0410 24026547 PMC3867988 · DOI
  3. [4]Bonnefond A, Philippe J, Durand E, et al. Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one‐step PCR‐based enrichment in combination with next‐generation sequencing. Diabetes Care. 2014; 37(2): 460‐ 467. doi: 10.2337/dc13-0698 24041679 · DOI
  4. [5]Ellard S, Lango Allen H, De Franco E, et al. Improved genetic testing for monogenic diabetes using targeted next‐generation sequencing. Diabetologia. 2013; 56(9): 1958‐ 1963. doi: 10.1007/s00125-013-2962-5 23771172 PMC3737433 · DOI
  5. [6]Gao R, Liu Y, Gjesing AP, et al. Evaluation of a target region capture sequencing platform using monogenic diabetes as a study‐model. BMC Genet. 2014; 15: 13. doi: 10.1186/1471-2156-15-13 24476040 PMC3943834 · DOI
  6. [7]Johansson S, Irgens H, Chudasama KK, et al. Exome sequencing and genetic testing for MODY. PLoS One. 2012; 7(5): e38050. doi: 10.1371/journal.pone.0038050 22662265 PMC3360646 · DOI
  7. [8]Alkorta‐Aranburu G, Carmody D, Cheng YW, et al. Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel‐based next‐generation sequencing approach. Mol Genet Metab. 2014; 113(4): 315‐ 320. doi: 10.1016/j.ymgme.2014.09.007 25306193 PMC4756642 · DOI
  8. [9]De Franco E, Flanagan SE, Houghton JA, et al. The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet. 2015; 386(9997): 957‐ 963. doi: 10.1016/S0140-6736(15)60098-8 26231457 PMC4772451 · DOI · Paper page
  9. [10]Tattersall R. Maturity‐onset diabetes of the young: a clinical history. Diabet Med. 1998; 15(1): 11‐ 14. doi: 10.1002/(SICI)1096-9136(199801)15:1<11::AID-DIA561>3.0.CO;2-0 9472858 · DOI
  10. [11]Iafusco D, Stazi MA, Cotichini R, et al. Permanent diabetes mellitus in the first year of life. Diabetologia. 2002; 45(6): 798‐ 804. 12107723
  11. [12]Ellard S, Bellanne‐Chantelot C, Hattersley AT. European molecular genetics quality network Mg. Best practice guidelines for the molecular genetic diagnosis of maturity‐onset diabetes of the young. Diabetologia. 2008; 51(4): 546‐ 553. doi: 10.1007/s00125-008-0942-y 18297260 PMC2270360 · DOI
  12. [14]Edghill EL, Dix RJ, Flanagan SE, et al. HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months. Diabetes. 2006; 55(6): 1895‐ 1898. 16731860
  13. [15]Johnson MB, Patel KA, De Franco E, et al. Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells. Diabetologia. 2020; 63: 2605‐ 2615. doi: 10.1007/s00125-020-05276-4 33029656 PMC7641942 · DOI
  14. [16]Johnson MB, De Franco E, Greeley SAW, et al. Trisomy 21 is a cause of permanent neonatal diabetes that is autoimmune but not HLA associated. Diabetes. 2019; 68(7): 1528‐ 1535. doi: 10.2337/db19-0045 30962220 PMC6609990 · DOI
  15. [17]Rubio‐Cabezas O, Flanagan SE, Damhuis A, Hattersley AT, Ellard S. KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life. Pediatr Diabetes. 2012; 13(4): 322‐ 325. doi: 10.1111/j.1399-5448.2011.00824.x 21981029 · DOI
  16. [18]Mohamadi A, Clark LM, Lipkin PH, Mahone EM, Wodka EL, Plotnick LP. Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15‐yr‐old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM. Pediatr Diabetes. 2010; 11(3): 203‐ 207. doi: 10.1111/j.1399-5448.2009.00548.x 19686306 · DOI
  17. [19]Slingerland AS, Hattersley AT. Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes. J Clin Endocrinol Metab. 2006; 91(7): 2782‐ 2788. doi: 10.1210/jc.2006-0201 16636122 · DOI
  18. [20]Temple I, Gardner R, Mackay D, Barber J, Robinson D, Shield J. Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes. Diabetes. 2000; 49(8): 1359‐ 1366. 10923638
  19. [21]Gardner RJ, Mackay DJ, Mungall AJ, et al. An imprinted locus associated with transient neonatal diabetes mellitus. Hum Mol Genet. 2000; 9(4): 589‐ 596. 10699182
  20. [22]Flanagan SE, Patch AM, Mackay DJ, et al. Mutations in ATP‐sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes. 2007; 56(7): 1930‐ 1937. doi: 10.2337/db07-0043 17446535 PMC7611811 · DOI
  21. [23]Yorifuji T, Kurokawa K, Mamada M, et al. Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: phenotypically discordant recurrence of a mutation in the hepatocyte nuclear Factor‐1{beta} gene due to germline mosaicism. J Clin Endocrinol Metab. 2004; 89(6): 2905‐ 2908. 15181075
  22. [24]Garin I, Edghill EL, Akerman I, et al. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proc Natl Acad Sci U S A. 2010; 107(7): 3105‐ 3110. doi: 10.1073/pnas.0910533107 20133622 PMC2840338 · DOI · Paper page
  23. [25]Mackay D, Bens S, Perez de Nanclares G, Siebert R, Temple IK. Clinical utility gene card for: transient neonatal diabetes mellitus, 6q24‐related. Eur J Hum Genet. 2014; 22(9): 1153. doi: 10.1038/ejhg.2014.27 PMC4135418 24569603 · DOI
  24. [26]Ma D, Shield JPH, Dean W, et al. Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. J Clin Invest. 2004; 114(3): 339‐ 348. 15286800 PMC484972
  25. [27]Temple IK, Shield JP. Transient neonatal diabetes, a disorder of imprinting. Review J Med Genet. 2002; 39(12): 872‐ 875. 12471198 PMC1757233
  26. [28]Mackay DJ, Hahnemann JM, Boonen SE, et al. Epimutation of the TNDM locus and the Beckwith‐Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. Hum Genet. 2006; 119(1–2): 179‐ 184. doi: 10.1007/s00439-005-0127-4 16402210 · DOI
  27. [29]Mackay DJ, Callaway JL, Marks SM, et al. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet. 2008; 40(8): 949‐ 951. doi: 10.1038/ng.187 18622393 · DOI
  28. [30]Docherty LE, Kabwama S, Lehmann A, et al. Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype‐phenotype correlation in an international cohort of patients. Diabetologia. 2013; 56(4): 758‐ 762. doi: 10.1007/s00125-013-2832-1 23385738 · DOI
  29. [31]Yorifuji T, Matsubara K, Sakakibara A, et al. Abnormalities in chromosome 6q24 as a cause of early‐onset, non‐obese, non‐autoimmune diabetes mellitus without history of neonatal diabetes. Diabet Med. 2015; 32(7): 963‐ 967. doi: 10.1111/dme.12758 25809823 · DOI
  30. [32]Sovik O, Aagenaes O, Eide SA, et al. Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40‐yr follow‐up. Pediatr Diabetes. 2012; 13(2): 155‐ 162. doi: 10.1111/j.1399-5448.2011.00776.x 21518169 · DOI
  31. [33]Carmody D, Beca FA, Bell CD, et al. Role of noninsulin therapies alone or in combination in chromosome 6q24‐related transient neonatal diabetes: sulfonylurea improves but does not always normalize insulin secretion. Diabetes Care. 2015; 38(6): e86‐ e87. doi: 10.2337/dc14-3056 25998302 PMC4439531 · DOI
  32. [34]Bonfanti R, Iafusco D, Rabbone I, et al. Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy. Eur J Endocrinol. 2021; 184(4): 575‐ 585. doi: 10.1530/EJE-20-1030 33606663 · DOI
  33. [35]Neumann U, Buhrer C, Blankenstein O, Kuhnen P, Raile K. Primary sulphonylurea therapy in a newborn with transient neonatal diabetes attributable to a paternal uniparental disomy 6q24 (UPD6). Diabetes Obes Metab. 2018; 20(2): 474‐ 475. doi: 10.1111/dom.13085 28817249 · DOI
  34. [36]Flanagan SE, Mackay DJ, Greeley SA, et al. Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype. Diabetologia. 2013; 56(1): 218‐ 221. doi: 10.1007/s00125-012-2766-z 23111732 PMC3982857 · DOI
  35. [37]Kalaivanan P, Arya VB, Shah P, et al. Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia. J Pediatr Endocrinol Metab. 2014; 27(11–12): 1065‐ 1069. doi: 10.1515/jpem-2014-0031 24859512 · DOI
  36. [38]Shield JP, Temple IK, Sabin M, et al. An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission. Arch Dis Child Fetal Neonatal Ed. 2004; 89(4): F341‐ F343. doi: 10.1136/adc.2003.030502 15210671 PMC1721722 · DOI
  37. [39]Busiah K, Drunat S, Vaivre‐Douret L, et al. Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected]. Lancet Diabetes Endocrinol. 2013; 1(3): 199‐ 207. doi: 10.1016/S2213-8587(13)70059-7 24622368 · DOI
  38. [40]Le Bourgeois F, Beltrand J, Baz B, et al. Long‐term metabolic and Socioeducational outcomes of transient neonatal diabetes: a longitudinal and cross‐sectional study. Diabetes Care. 2020; 43(6): 1191‐ 1199. doi: 10.2337/dc19-0324 32273272 · DOI
  39. [42]Babenko AP, Polak M, Cave H, et al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med. 2006; 355(5): 456‐ 466. 16885549
  40. [43]Ellard S, Flanagan SE, Girard CA, et al. Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. Am J Hum Genet. 2007; 81(2): 375‐ 382. doi: 10.1086/519174 17668386 PMC1950816 · DOI · Paper page
  41. [44]Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia. 2006; 49(6): 1190‐ 1197. 16609879
  42. [45]Vaxillaire M, Populaire C, Busiah K, et al. Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes. 2004; 53(10): 2719‐ 2722. 15448107
  43. [46]Russo L, Iafusco D, Brescianini S, et al. Permanent diabetes during the first year of life: multiple gene screening in 54 patients. Diabetologia. 2011; 54(7): 1693‐ 1701. doi: 10.1007/s00125-011-2094-8 21544516 PMC3110270 · DOI
  44. [47]Rubio‐Cabezas O, Ellard S. Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options. Horm Res Paediatr. 2013; 80(3): 137‐ 146. doi: 10.1159/000354219 24051999 PMC3884170 · DOI
  45. [48]McTaggart JS, Clark RH, Ashcroft FM. The role of the KATP channel in glucose homeostasis in health and disease: more than meets the islet. J Physiol. 2010; 588(Pt 17): 3201‐ 3209. doi: 10.1113/jphysiol.2010.191767 20519313 PMC2976015 · DOI
  46. [49]Ashcroft FM. ATP‐sensitive potassium channelopathies: focus on insulin secretion. J Clin Invest. 2005; 115(8): 2047‐ 2058. doi: 10.1172/JCI25495 16075046 PMC1180549 · DOI
  47. [50]Flanagan SE, Dung VC, Houghton JAL, et al. An ABCC8 nonsense mutation causing neonatal diabetes through altered transcript expression. J Clin Res Pediatr Endocrinol. 2017; 9(3): 260‐ 264. doi: 10.4274/jcrpe.4624 28663158 PMC5596808 · DOI
  48. [51]Proks P, Arnold AL, Bruining J, et al. A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet. 2006; 15(11): 1793‐ 1800. 16613899
  49. [52]Letourneau LR, Carmody D, Wroblewski K, et al. Diabetes presentation in infancy: high risk of diabetic ketoacidosis. Diabetes Care. 2017; 40: e147‐ e148. doi: 10.2337/dc17-1145 28779000 PMC5606305 · DOI
  50. [53]Gloyn AL, Diatloff‐Zito C, Edghill EL, et al. KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur J Hum Genet. 2006; 14(7): 824‐ 830. doi: 10.1038/sj.ejhg.5201629 16670688 · DOI
  51. [54]Hattersley AT, Ashcroft FM. Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy. Diabetes. 2005; 54(9): 2503‐ 2513. 16123337
  52. [55]Clark RH, McTaggart JS, Webster R, et al. Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin. Science. 2010; 329(5990): 458‐ 461. doi: 10.1126/science.1186146 20595581 PMC5890903 · DOI
  53. [56]Carmody D, Pastore AN, Landmeier KA, et al. Patients with KCNJ11‐related diabetes frequently have neuropsychological impairments compared with sibling controls. Diabet Med. 2016; 33: 1380‐ 1386. doi: 10.1111/dme.13159 27223594 PMC5654490 · DOI
  54. [57]Bowman P, Broadbridge E, Knight BA, et al. Psychiatric morbidity in children with KCNJ11 neonatal diabetes. Diabet Med. 2016; 33: 1387‐ 1391. doi: 10.1111/dme.13135 27086753 PMC5031218 · DOI
  55. [58]Landmeier KA, Lanning M, Carmody D, Greeley SAW, Msall ME. ADHD, learning difficulties and sleep disturbances associated with KCNJ11‐related neonatal diabetes. Pediatr Diabetes. 2017; 18(7): 518‐ 523. doi: 10.1111/pedi.12428 27555491 PMC5720354 · DOI
  56. [59]Rafiq M, Flanagan SE, Patch AM, et al. Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care. 2008; 31(2): 204‐ 209. doi: 10.2337/dc07-1785 18025408 PMC7611807 · DOI
  57. [60]Garcin L, Mericq V, Fauret‐Amsellem AL, Cave H, Polak M, Beltrand J. Neonatal diabetes due to potassium channel mutation: response to sulfonylurea according to the genotype. Pediatr Diabetes. 2020; 21(6): 932‐ 941. doi: 10.1111/pedi.13041 32418263 · DOI
  58. [61]Ngoc CTB, Dien TM, De Franco E, et al. Molecular genetics, clinical characteristics, and treatment outcomes of KATP‐channel neonatal diabetes mellitus in Vietnam National Children's Hospital. Front Endocrinol. 2021; 12: 727083. doi: 10.3389/fendo.2021.727083 PMC8458931 34566892 · DOI
  59. [62]Beltrand J, Baptiste A, Busiah K, et al. Glibenclamide oral suspension: suitable and effective in patients with neonatal diabetes. Pediatr Diabetes. 2019; 20(3): 246‐ 254. doi: 10.1111/pedi.12823 30684309 · DOI
  60. [64]Bowman P, Sulen Å, Barbetti F, et al. Effectiveness and safety of long‐term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. Lancet Diabetes Endocrinol. 2018; 6(8): 637‐ 646. doi: 10.1016/s2213-8587(18)30106-2 29880308 PMC6058077 · DOI
  61. [65]Lanning MS, Carmody D, Szczerbinski L, Letourneau LR, Naylor RN, Greeley SAW. Hypoglycemia in sulfonylurea‐treated KCNJ11‐neonatal diabetes: mild‐moderate symptomatic episodes occur infrequently but none involving unconsciousness or seizures. Pediatr Diabetes. 2018; 19(3): 393‐ 397. doi: 10.1111/pedi.12599 29205704 PMC5918230 · DOI
  62. [66]Sagen JV, Raeder H, Hathout E, et al. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes. 2004; 53(10): 2713‐ 2718. 15448106
  63. [67]Greeley SA, Tucker SE, Naylor RN, Bell GI, Philipson LH. Neonatal diabetes mellitus: a model for personalized medicine. Research support, N.I.H., extramural research support, non‐U.S. Gov't review. Trends Endocrinol Metab. 2010; 21(8): 464‐ 472. doi: 10.1016/j.tem.2010.03.004 20434356 PMC2914172 · DOI
  64. [68]Greeley SA, Tucker SE, Worrell HI, Skowron KB, Bell GI, Philipson LH. Update in neonatal diabetes. Research support, N.I.H., extramural research support, non‐U.S. Gov't review. Curr Opin Endocrinol Diabetes Obes. 2010; 17(1): 13‐ 19. doi: 10.1097/MED.0b013e328334f158 19952737 · DOI
  65. [69]Thurber BW, Carmody D, Tadie EC, et al. Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11‐related neonatal diabetes. Diabetologia. 2015; 58(7): 1430‐ 1435. doi: 10.1007/s00125-015-3593-9 25877689 PMC4641523 · DOI
  66. [70]Babiker T, Vedovato N, Patel K, et al. Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. Diabetologia. 2016; 59(6): 1162‐ 1166. doi: 10.1007/s00125-016-3921-8 27033559 PMC4869695 · DOI · Paper page
  67. [71]Klupa T, Skupien J, Mirkiewicz‐Sieradzka B, et al. Efficacy and safety of sulfonylurea use in permanent neonatal diabetes due to KCNJ11 gene mutations: 34‐month median follow‐up. Diabetes Technol Ther. 2010; 12(5): 387‐ 391. doi: 10.1089/dia.2009.0165 20184447 · DOI
  68. [72]Pearson ER, Flechtner I, Njolstad PR, et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med. 2006; 355(5): 467‐ 477. doi: 10.1056/NEJMoa061759 16885550 · DOI · Paper page
  69. [73]Codner E, Flanagan S, Ellard S, Garcia H, Hattersley AT. High‐dose Glibenclamide can replace insulin therapy despite transitory diarrhea in early‐onset diabetes caused by a novel R201L Kir6.2 mutation. Diabetes Care. 2005; 28(3): 758‐ 759. 15735229
  70. [74]Kumaraguru J, Flanagan SE, Greeley SA, et al. Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect. Diabetes Care. 2009; 32(8): 1428‐ 1430. doi: 10.2337/dc09-0280 19435956 PMC2713626 · DOI
  71. [75]Iafusco D, Zanfardino A, Piscopo A, et al. Case report: coeliac disease as a cause of secondary failure of glibenclamide therapy in a patient with permanent neonatal diabetes due to KCNJ11/R201C mutation. Diabetologia. 2021; 64(7): 1703‐ 1706. doi: 10.1007/s00125-021-05454-y 33987715 PMC8187167 · DOI
  72. [76]Bowman P, McDonald TJ, Knight BA, et al. Patterns of postmeal insulin secretion in individuals with sulfonylurea‐treated KCNJ11 neonatal diabetes show predominance of non‐KATP‐channel pathways. BMJ Open Diabetes Res Care. 2019; 7(1): e000721. doi: 10.1136/bmjdrc-2019-000721 PMC6936449 31908791 · DOI
  73. [77]Fendler W, Pietrzak I, Brereton MF, et al. Switching to sulphonylureas in children with iDEND syndrome caused by KCNJ11 mutations results in improved cerebellar perfusion. Diabetes Care. 2013; 36(8): 2311‐ 2316. doi: 10.2337/dc12-2166 23462667 PMC3714477 · DOI
  74. [78]Mlynarski W, Tarasov AI, Gach A, et al. Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11. Nat Clin Pract Neurol. 2007; 3: 640‐ 645. doi: 10.1038/ncpneuro0640 17982434 · DOI
  75. [79]Lahmann C, Kramer HB, Ashcroft FM. Systemic Administration of Glibenclamide Fails to achieve therapeutic levels in the brain and cerebrospinal fluid of rodents. PLoS One. 2015; 10(7): e0134476. doi: 10.1371/journal.pone.0134476 26225433 PMC4520580 · DOI
  76. [80]Battaglia D, Lin YW, Brogna C, et al. Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226‐232 mutation. Pediatr Diabetes. 2012; 13(8): 656‐ 660. doi: 10.1111/j.1399-5448.2012.00874.x 22694282 PMC3747824 · DOI
  77. [81]Gurgel LC, Crispim F, Noffs MH, Belzunces E, Rahal MA, Moises RS. Sulfonylrea treatment in permanent neonatal diabetes due to G53D mutation in the KCNJ11 gene: improvement in glycemic control and neurological function. Diabetes Care. 2007; 30: e108. doi: 10.2337/dc07-1196 17965292 · DOI
  78. [82]Koster JC, Cadario F, Peruzzi C, Colombo C, Nichols CG, Barbetti F. The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy. J Clin Endocrinol Metab. 2008; 93(3): 1054‐ 1061. doi: 10.1210/jc.2007-1826 18073297 PMC2266958 · DOI
  79. [83]Shah RP, Spruyt K, Kragie BC, Greeley SA, Msall ME. Visuomotor performance in KCNJ11‐related neonatal diabetes is impaired in children with DEND‐associated mutations and may be improved by early treatment with sulfonylureas. Diabetes Care. 2012; 35: 2086‐ 2088. doi: 10.2337/dc11-2225 22855734 PMC3447845 · DOI
  80. [84]Bowman P, Mathews F, Barbetti F, et al. Long‐term follow‐up of glycemic and neurological outcomes in an international series of patients with sulfonylurea‐treated ABCC8 permanent neonatal diabetes. Diabetes Care. 2021; 44(1): 35‐ 42. doi: 10.2337/dc20-1520 33184150 PMC7783935 · DOI
  81. [85]Berdugo M, Delaunay K, Lebon C, et al. Long‐term Oral treatment with non‐hypoglycemic dose of Glibenclamide reduces diabetic retinopathy damage in the Goto‐KakizakiRat model. Pharmaceutics. 2021; 13(7): 1095. doi: 10.3390/pharmaceutics13071095 34371786 PMC8308933 · DOI
  82. [86]Berdugo M, Delaunay K, Naud MC, et al. The antidiabetic drug glibenclamide exerts direct retinal neuroprotection. Transl Res. 2021; 229: 83‐ 99. doi: 10.1016/j.trsl.2020.10.003 33080394 · DOI
  83. [87]Dalgin G, Tryba AK, Cohen AP, et al. Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M‐related neonatal diabetes. Sci Rep. 2021; 11: 21590. doi: 10.1038/s41598-021-00939-7 34732776 PMC8566525 · DOI
  84. [88]Edghill EL, Gloyn AL, Goriely A, et al. Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings. J Clin Endocrinol Metab. 2007; 92(5): 1773‐ 1777. doi: 10.1210/jc.2006-2817 17327377 PMC7611879 · DOI
  85. [89]Polak M, Dechaume A, Cave H, et al. Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (neonatal diabetes) study group. Diabetes. 2008; 57(4): 1115‐ 1119. 18171712
  86. [90]Stoy J, Edghill EL, Flanagan SE, et al. Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A. 2007; 104(38): 15040‐ 15044. doi: 10.1073/pnas.0707291104 17855560 PMC1986609 · DOI · Paper page
  87. [91]Edghill EL, Flanagan SE, Patch AM, et al. Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes. 2008; 57(4): 1034‐ 1042. doi: 10.2337/db07-1405 18162506 PMC7611804 · DOI · Paper page
  88. [92]Flechtner I, Vaxillaire M, Cave H, Scharfmann R, Froguel P, Polak M. Neonatal hyperglycaemia and abnormal development of the pancreas. Best Pract Res Clin Endocrinol Metab. 2008; 22(1): 17‐ 40. doi: 10.1016/j.beem.2007.08.003 18279778 · DOI
  89. [93]Colombo C, Porzio O, Liu M, et al. Seven mutations in the human insulin gene linked to permanent neonatal/infancy‐onset diabetes mellitus. J Clin Invest. 2008; 118(6): 2148‐ 2156. doi: 10.1172/JCI33777 18451997 PMC2350430 · DOI
  90. [94]Liu M, Sun J, Cui J, et al. INS‐gene mutations: from genetics and beta cell biology to clinical disease. Mol Asp Med. 2015; 42: 3‐ 18. doi: 10.1016/j.mam.2014.12.001 PMC4404187 25542748 · DOI
  91. [95]Wang H, Saint‐Martin C, Xu J, et al. Biological behaviors of mutant proinsulin contribute to the phenotypic spectrum of diabetes associated with insulin gene mutations. Mol Cell Endocrinol. 2020; 518: 111025. doi: 10.1016/j.mce.2020.111025 32916194 PMC7734662 · DOI
  92. [96]Molven A, Ringdal M, Nordbo AM, et al. Mutations in the insulin gene can cause MODY and autoantibody‐negative type 1 diabetes. Diabetes. 2008; 57(4): 1131‐ 1135. doi: 10.2337/db07-1467 18192540 · DOI
  93. [97]Senee V, Vattem KM, Delepine M, et al. Wolcott‐Rallison syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. Diabetes. 2004; 53(7): 1876‐ 1883. 15220213
  94. [98]Delepine M, Nicolino M, Barrett T, Golamaully M, Lathrop GM, Julier C. EIF2AK3, encoding translation initiation factor 2‐alpha kinase 3, is mutated in patients with Wolcott‐Rallison syndrome. Nat Genet. 2000; 25(4): 406‐ 409. doi: 10.1038/78085 10932183 · DOI · Paper page
  95. [99]Rubio‐Cabezas O, Patch AM, Minton JA, et al. Wolcott‐Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. J Clin Endocrinol Metab. 2009; 94(11): 4162‐ 4170. doi: 10.1210/jc.2009-1137 19837917 PMC2775655 · DOI
  96. [100]Habeb AM, Flanagan SE, Deeb A, et al. Permanent neonatal diabetes: different aetiology in Arabs compared to Europeans. Arch Dis Child. 2012; 97(8): 721‐ 723. doi: 10.1136/archdischild-2012-301744 22859427 · DOI
  97. [101]Habeb AM, Deeb A, Johnson M, et al. Liver disease and other comorbidities in Wolcott‐Rallison syndrome: different phenotype and variable associations in a large cohort. Horm Res Paediatr. 2015; 83(3): 190‐ 197. doi: 10.1159/000369804 25659842 PMC4464042 · DOI
  98. [102]Tzakis AG, Nunnelley MJ, Tekin A, et al. Liver, pancreas and kidney transplantation for the treatment of Wolcott‐Rallison syndrome. Am J Transplant. 2015; 15(2): 565‐ 567. doi: 10.1111/ajt.13005 25384546 · DOI
  99. [103]Nordstrom J, Lundgren M, Jorns C, et al. First European case of simultaneous liver and pancreas transplantation as treatment of Wolcott‐Rallison syndrome in a small child. Transplantation. 2020; 104(3): 522‐ 525. doi: 10.1097/TP.0000000000002869 31335762 · DOI
  100. [104]Elsabbagh AM, Hawksworth J, Khan KM, Yazigi N, Matsumoto CS, Fishbein TM. World's smallest combined en bloc liver‐pancreas transplantation. Pediatr Transplant. 2018; 22: 13082. doi: 10.1111/petr.13082 PMC6433131 29139617 · DOI
  101. [105]Matschinsky FM. Glucokinase, glucose homeostasis, and diabetes mellitus. Curr Diab Rep. 2005; 5(3): 171‐ 176. doi: 10.1007/s11892-005-0005-4 15929862 · DOI
  102. [106]Njølstad PR, Sagen JV, Bjorkhaug L, et al. Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose‐insulin signaling pathway. Diabetes. 2003; 52(11): 2854‐ 2860. doi: 10.2337/diabetes.52.11.2854 14578306 · DOI
  103. [107]Njolstad PR, Sovik O, Cuesta‐Munoz A, et al. Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med. 2001; 344(21): 1588‐ 1592. 11372010
  104. [108]Raimondo A, Chakera AJ, Thomsen SK, et al. Phenotypic severity of homozygous GCK mutations causing neonatal or childhood‐onset diabetes is primarily mediated through effects on protein stability. Hum Mol Genet. 2014; 23(24): 6432‐ 6440. doi: 10.1093/hmg/ddu360 25015100 PMC4240195 · DOI
  105. [109]Esquiaveto‐Aun AM, De Mello MP, Paulino MF, Minicucci WJ, Guerra‐Junior G, De Lemos‐Marini SH. A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double‐first cousins. Diabetol Metab Syndr. 2015; 7: 101. doi: 10.1186/s13098-015-0101-9 26587058 PMC4652399 · DOI
  106. [110]Lin DC, Huang CY, Ting WH, et al. Mutations in glucokinase and other genes detected in neonatal and type 1B diabetes patient using whole exome sequencing may lead to disease‐causing changes in protein activity. Biochim Biophys Acta Mol basis Dis. 2019; 1865: 428‐ 433. doi: 10.1016/j.bbadis.2018.11.013 30465894 · DOI
  107. [111]Bolu S, Eroz R, Dogan M, Arslanoglu I, Uzun H, Timur F. A family with novel homozygous deletion mutation (c.1255delT; p.Phe419Serfs*12) in the glucokinase gene, which is a rare cause of permanent neonatal diabetes mellitus. Turk Pediatri Ars. 2020; 55(4): 434‐ 437. doi: 10.14744/TurkPediatriArs.2019.05882 33414663 PMC7750344 · DOI
  108. [112]Shepherd M, Knight BA, Laskey K, McDonald TJ. Parental experiences of a diagnosis of neonatal diabetes and perceptions of newborn screening for glucose: a qualitative study. BMJ Open. 2020; 10(11): e037312. doi: 10.1136/bmjopen-2020-037312 PMC7643500 33148726 · DOI
  109. [113]Oza CM, Karguppikar MB, Khadilkar V, Khadilkar A. Variable presentations of GCK gene mutation in a family. BMJ Case Rep. 2022; 15(2): e246699. doi: 10.1136/bcr-2021-246699 PMC8886375 35228227 · DOI
  110. [114]Al Senani A, Hamza N, Al Azkawi H, et al. Genetic mutations associated with neonatal diabetes mellitus in Omani patients. J Pediatr Endocrinol Metab. 2018; 31(2): 195‐ 204. doi: 10.1515/jpem-2017-0284 29329106 PMC6853791 · DOI
  111. [115]Iafusco D, Salardi S, Chiari G, et al. No sign of proliferative retinopathy in 15 patients with permanent neonatal diabetes with a median diabetes duration of 24 years. Diabetes Care. 2014; 37(8): e181‐ e182. doi: 10.2337/dc14-0471 25061150 · DOI
  112. [116]Flanagan SE, Haapaniemi E, Russell MA, et al. Activating germline mutations in STAT3 cause early‐onset multi‐organ autoimmune disease. Nat Genet. 2014; 46(8): 812‐ 814. doi: 10.1038/ng.3040 25038750 PMC4129488 · DOI
  113. [117]Rubio‐Cabezas O, Minton JA, Caswell R, et al. Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes. Diabetes Care. 2009; 32(1): 111‐ 116. doi: 10.2337/dc08-1188 18931102 PMC2606841 · DOI
  114. [118]Johnson MB, De Franco E, Lango Allen H, et al. Recessively inherited LRBA mutations cause autoimmunity presenting as neonatal diabetes. Diabetes. 2017; 66(8): 2316‐ 2322. doi: 10.2337/db17-0040 28473463 PMC5524180 · DOI
  115. [119]Bennett CL, Christie J, Ramsdell F, et al. The immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet. 2001; 27(1): 20‐ 21. 11137993
  116. [120]Verbsky JW, Chatila TA. Immune dysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) and IPEX‐related disorders: an evolving web of heritable autoimmune diseases. Curr Opin Pediatr. 2013; 25(6): 708‐ 714. doi: 10.1097/MOP.0000000000000029 24240290 PMC4047515 · DOI
  117. [121]Duclaux‐Loras R, Charbit‐Henrion F, Neven B, et al. Clinical heterogeneity of immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome: a French multicenter retrospective study. Clin Transl Gastroenterol. 2018; 9(10): 201. doi: 10.1038/s41424-018-0064-x 30385752 PMC6212456 · DOI
  118. [122]Gambineri E, Ciullini Mannurita S, Hagin D, et al. Clinical, immunological, and molecular heterogeneity of 173 patients with the phenotype of immune dysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome. Front Immunol. 2018; 9: 2411. doi: 10.3389/fimmu.2018.02411 30443250 PMC6223101 · DOI
  119. [123]Yong PL, Russo P, Sullivan KE. Use of sirolimus in IPEX and IPEX‐like children. J Clin Immunol. 2008; 28(5): 581‐ 587. doi: 10.1007/s10875-008-9196-1 18481161 · DOI
  120. [124]Bindl L, Torgerson T, Perroni L, et al. Successful use of the new immune‐suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome). J Pediatr. 2005; 147(2): 256‐ 259. doi: 10.1016/j.jpeds.2005.04.017 16126062 · DOI
  121. [125]Rao A, Kamani N, Filipovich A, et al. Successful bone marrow transplantation for IPEX syndrome after reduced‐intensity conditioning. Blood. 2007; 109(1): 383‐ 385. doi: 10.1182/blood-2006-05-025072 16990602 · DOI
  122. [126]Barzaghi F, Amaya Hernandez LC, Neven B, et al. Long‐term follow‐up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study. J Allergy Clin Immunol. 2018; 141: 1036‐ 1049.e5. doi: 10.1016/j.jaci.2017.10.041 29241729 PMC6050203 · DOI
  123. [127]Schubert D, Bode C, Kenefeck R, et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med. 2014; 20(12): 1410‐ 1416. doi: 10.1038/nm.3746 25329329 PMC4668597 · DOI
  124. [128]Johnson MB, Hattersley AT, Flanagan SE. Monogenic autoimmune diseases of the endocrine system. Lancet Diabetes Endocrinol. 2016; 4(10): 862‐ 872. doi: 10.1016/S2213-8587(16)30095-X 27474216 · DOI
  125. [129]Goudy K, Aydin D, Barzaghi F, et al. Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity. Clin Immunol. 2013; 146(3): 248‐ 261. doi: 10.1016/j.clim.2013.01.004 23416241 PMC3594590 · DOI
  126. [130]Roth TL, Puig‐Saus C, Yu R, et al. Reprogramming human T cell function and specificity with non‐viral genome targeting. Nature. 2018; 559(7714): 405‐ 409. doi: 10.1038/s41586-018-0326-5 29995861 PMC6239417 · DOI · Paper page
  127. [131]Velayos T, Martinez R, Alonso M, et al. An activating mutation in STAT3 results in neonatal diabetes through reduced insulin synthesis. Diabetes. 2017; 66(4): 1022‐ 1029. doi: 10.2337/db16-0867 28073828 · DOI
  128. [132]Toubiana J, Okada S, Hiller J, et al. Heterozygous STAT1 gain‐of‐function mutations underlie an unexpectedly broad clinical phenotype. Blood. 2016; 127: 3154‐ 3164. doi: 10.1182/blood-2015-11-679902 27114460 PMC4920021 · DOI
  129. [133]Weedon MN, Cebola I, Patch AM, et al. Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet. 2014; 46(1): 61‐ 64. doi: 10.1038/ng.2826 24212882 PMC4131753 · DOI
  130. [134]Allen HL, Flanagan SE, Shaw‐Smith C, et al. GATA6 haploinsufficiency causes pancreatic agenesis in humans. Research support, non‐U.S. Gov't. Nat Genet. 2012; 44(1): 20‐ 22. doi: 10.1038/ng.1035 PMC4062962 22158542 · DOI
  131. [135]Habeb AM, Flanagan SE, Zulali MA, et al. Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome. Diabetologia. 2018; 61(5): 1027‐ 1036. doi: 10.1007/s00125-018-4554-x 29450569 PMC6449001 · DOI
  132. [136]Fajans SS, Bell GI. MODY: history, genetics, pathophysiology, and clinical decision making. Diabetes Care. 2011; 34(8): 1878‐ 1884. doi: 10.2337/dc11-0035 21788644 PMC3142024 · DOI
  133. [137]Tattersall RB, Fajans SS. A difference between the inheritance of classical juvenile‐onset and maturity‐onset type diabetes of young people. Diabetes. 1975; 24(1): 44‐ 53. doi: 10.2337/diab.24.1.44 1122063 · DOI
  134. [138]Tattersall RB. Mild familial diabetes with dominant inheritance. Q J Med. 1974; 43(170): 339‐ 357. 4212169
  135. [139]Bellanne‐Chantelot C, Clauin S, Chauveau D, et al. Large genomic rearrangements in the hepatocyte nuclear factor‐1beta (TCF2) gene are the most frequent cause of maturity‐onset diabetes of the young type 5. Diabetes. 2005; 54(11): 3126‐ 3132. doi: 10.2337/diabetes.54.11.3126 16249435 · DOI
  136. [140]Moller AM, Dalgaard LT, Pociot F, Nerup J, Hansen T, Pedersen O. Mutations in the hepatocyte nuclear factor‐1alpha gene in Caucasian families originally classified as having type I diabetes. Diabetologia. 1998; 41(12): 1528‐ 1531. doi: 10.1007/s001250051101 9867222 · DOI
  137. [141]Lambert AP, Ellard S, Allen LI, et al. Identifying hepatic nuclear factor 1alpha mutations in children and young adults with a clinical diagnosis of type 1 diabetes. Diabetes Care. 2003; 26(2): 333‐ 337. 12547858
  138. [143]Kleinberger JW, Copeland KC, Gandica RG, et al. Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial. Genet Med. 2018; 20(6): 583‐ 590. doi: 10.1038/gim.2017.150 29758564 PMC5955780 · DOI
  139. [144]Fendler W, Borowiec M, Baranowska‐Jazwiecka A, et al. Prevalence of monogenic diabetes amongst polish children after a nationwide genetic screening campaign. Diabetologia. 2012; 55(10): 2631‐ 2635. doi: 10.1007/s00125-012-2621-2 22782286 PMC3433657 · DOI
  140. [145]Irgens HU, Molnes J, Johansson BB, et al. Prevalence of monogenic diabetes in the population‐based Norwegian childhood diabetes registry. Diabetologia. 2013; 56(7): 1512‐ 1519. doi: 10.1007/s00125-013-2916-y 23624530 · DOI
  141. [147]Johansson BB, Irgens HU, Molnes J, et al. Targeted next‐generation sequencing reveals MODY in up to 6.5% of antibody‐negative diabetes cases listed in the Norwegian childhood diabetes registry. Diabetologia. 2017; 60(4): 625‐ 635. doi: 10.1007/s00125-016-4167-1 27913849 · DOI
  142. [148]Delvecchio M, Mozzillo E, Salzano G, et al. Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012. J Clin Endocrinol Metab. 2017; 102(6): 1826‐ 1834. doi: 10.1210/jc.2016-2490 28323911 · DOI
  143. [151]Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S. Maturity‐onset diabetes of the young (MODY): how many cases are we missing? Diabetologia. 2010; 53(12): 2504‐ 2508. doi: 10.1007/s00125-010-1799-4 20499044 · DOI · Paper page
  144. [152]Stanik J, Dusatkova P, Cinek O, et al. De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed. Diabetologia. 2014; 57(3): 480‐ 484. doi: 10.1007/s00125-013-3119-2 24323243 · DOI
  145. [153]Raeder H, Johansson S, Holm PI, et al. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nat Genet. 2006; 38(1): 54‐ 62. doi: 10.1038/ng1708 16369531 · DOI
  146. [154]Prisco F, Iafusco D, Franzese A, Sulli N, Barbetti F. MODY 2 presenting as neonatal hyperglycaemia: a need to reshape the definition of "neonatal diabetes"? Diabetologia. 2000; 43(10): 1331‐ 1332. doi: 10.1007/s001250051531 11079754 · DOI
  147. [155]Steele AM, Wensley KJ, Ellard S, et al. Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies. PLoS One. 2013; 8(6): e65326. doi: 10.1371/journal.pone.0065326 23799006 PMC3683003 · DOI
  148. [156]Stride A, Vaxillaire M, Tuomi T, et al. The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia. 2002; 45(3): 427‐ 435. 11914749
  149. [157]Lorini R, Alibrandi A, Vitali L, et al. Risk of type 1 diabetes development in children with incidental hyperglycemia: a multicenter Italian study. Diabetes Care. 2001; 24(7): 1210‐ 1216. 11423504
  150. [158]Lorini R, Klersy C, d'Annunzio G, et al. Maturity‐onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. Diabetes Care. 2009; 32(10): 1864‐ 1866. doi: 10.2337/dc08-2018 19564454 PMC2752915 · DOI
  151. [159]Steele AM, Shields BM, Wensley KJ, Colclough K, Ellard S, Hattersley AT. Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia. JAMA. 2014; 311(3): 279‐ 286. doi: 10.1001/jama.2013.283980 24430320 · DOI
  152. [160]Velho G, Blanche H, Vaxillaire M, et al. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY‐2 families. Diabetologia. 1997; 40(2): 217‐ 224. 9049484
  153. [161]Stride A, Shields B, Gill‐Carey O, et al. Cross‐sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia. Diabetologia. 2014; 57(1): 54‐ 56. doi: 10.1007/s00125-013-3075-x 24092492 PMC3855531 · DOI
  154. [162]Chakera AJ, Steele AM, Gloyn AL, et al. Recognition and Management of Individuals with Hyperglycemia because of a heterozygous Glucokinase mutation. Diabetes Care. 2015; 38(7): 1383‐ 1392. doi: 10.2337/dc14-2769 26106223 · DOI
  155. [163]Chakera AJ, Spyer G, Vincent N, Ellard S, Hattersley AT, Dunne FP. The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic diabetes in pregnancy cohort. Diabetes Care. 2014; 37(5): 1230‐ 1236. doi: 10.2337/dc13-2248 24550216 · DOI
  156. [164]Rudland VL, Hinchcliffe M, Pinner J, et al. Identifying Glucokinase monogenic diabetes in a multiethnic gestational diabetes mellitus cohort: new pregnancy screening criteria and utility of HbA1c. Diabetes Care. 2016; 39(1): 50‐ 52. doi: 10.2337/dc15-1001 26109503 · DOI
  157. [165]Fendler W, Malachowska B, Baranowska‐Jazwiecka A, et al. Population‐based estimates for double diabetes amongst people with glucokinase monogenic diabetes, GCK‐MODY. Diabet Med. 2014; 31(7): 881‐ 883. doi: 10.1111/dme.12449 24660669 · DOI
  158. [166]Isomaa B, Henricsson M, Lehto M, et al. Chronic diabetic complications in patients with MODY3 diabetes. Diabetologia. 1998; 41(4): 467‐ 473. doi: 10.1007/s001250050931 9562352 · DOI
  159. [167]Pearson ER, Pruhova S, Tack CJ, et al. Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. Diabetologia. 2005; 48(5): 878‐ 885. doi: 10.1007/s00125-005-1738-y 15830177 · DOI
  160. [168]Ostoft SH, Bagger JI, Hansen T, et al. Glucose‐lowering effects and low risk of hypoglycemia in patients with maturity‐onset diabetes of the young when treated with a GLP‐1 receptor agonist: a double‐blind, randomized, crossover trial. Diabetes Care. 2014; 37(7): 1797‐ 1805. doi: 10.2337/dc13-3007 24929431 · DOI
  161. [169]Bacon S, Kyithar MP, Rizvi SR, et al. Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A‐MODY cohort. Diabet Med. 2016; 33(7): 976‐ 984. doi: 10.1111/dme.12992 26479152 · DOI
  162. [170]Steele AM, Shields BM, Shepherd M, Ellard S, Hattersley AT, Pearson ER. Increased all‐cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene. Diabet Med. 2010; 27(2): 157‐ 161. doi: 10.1111/j.1464-5491.2009.02913.x 20546258 · DOI · Paper page
  163. [171]Bellanne‐Chantelot C, Carette C, Riveline JP, et al. The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity‐onset diabetes of the young (MODY)‐3. Diabetes. 2008; 57(2): 503‐ 508. doi: 10.2337/db07-0859 18003757 · DOI
  164. [172]Harries LW, Ellard S, Stride A, Morgan NG, Hattersley AT. Isomers of the TCF1 gene encoding hepatocyte nuclear factor‐1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. Hum Mol Genet. 2006; 15(14): 2216‐ 2224. doi: 10.1093/hmg/ddl147 16760222 · DOI
  165. [173]Donath X, Saint‐Martin C, Dubois‐Laforgue D, et al. Next‐generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult‐onset diabetes selected on a clinical basis: a cross‐sectional analysis. BMC Med. 2019; 17(1): 132. doi: 10.1186/s12916-019-1363-0 31291970 PMC6621990 · DOI
  166. [174]Stride A, Ellard S, Clark P, et al. Beta‐cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor‐1alpha mutation carriers. Diabetes Care. 2005; 28(7): 1751‐ 1756. doi: 10.2337/diacare.28.7.1751 15983330 · DOI
  167. [175]Hamilton AJ, Bingham C, McDonald TJ, et al. The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a beta cell phenotype. J Med Genet. 2014; 51(3): 165‐ 169. doi: 10.1136/jmedgenet-2013-102066 24285859 PMC3932761 · DOI
  168. [176]Pearson ER, Boj SF, Steele AM, et al. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med. 2007; 4(4): e118. doi: 10.1371/journal.pmed.0040118 17407387 PMC1845156 · DOI
  169. [177]Flanagan SE, Kapoor RR, Mali G, et al. Diazoxide‐responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. Eur J Endocrinol. 2010; 162(5): 987‐ 992. doi: 10.1530/EJE-09-0861 20164212 PMC2857991 · DOI
  170. [178]Kapoor RR, Locke J, Colclough K, et al. Persistent hyperinsulinemic hypoglycemia and maturity‐onset diabetes of the young due to heterozygous HNF4A mutations. Diabetes. 2008; 57(6): 1659‐ 1663. doi: 10.2337/db07-1657 18268044 · DOI
  171. [179]Stanescu DE, Hughes N, Kaplan B, Stanley CA, De Leon DD. Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. Research support, N.I.H., extramural. J Clin Endocrinol Metab. 2012; 97(10): E2026‐ E2030. doi: 10.1210/jc.2012-1356 22802087 PMC3674296 · DOI
  172. [180]Pearson ER, Starkey BJ, Powell RJ, Gribble FM, Clark PM, Hattersley AT. Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet. 2003; 362: 1275‐ 1281. 14575972
  173. [181]Byrne MM, Sturis J, Menzel S, et al. Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes. 1996; 45(11): 1503‐ 1510. doi: 10.2337/diab.45.11.1503 8866553 · DOI
  174. [182]Fajans SS, Brown MB. Administration of sulfonylureas can increase glucose‐induced insulin secretion for decades in patients with maturity‐onset diabetes of the young. Diabetes Care. 1993; 16(9): 1254‐ 1261. doi: 10.2337/diacare.16.9.1254 8404429 · DOI
  175. [183]Shepherd M, Shields B, Ellard S, Rubio‐Cabezas O, Hattersley AT. A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin‐treated patients. Diabet Med. 2009; 26(4): 437‐ 441. doi: 10.1111/j.1464-5491.2009.02690.x 19388975 · DOI
  176. [184]Raile K, Schober E, Konrad K, et al. Treatment of young patients with HNF1A mutations (HNF1A‐MODY). Diabet Med. 2015; 32(4): 526‐ 530. doi: 10.1111/dme.12662 25483937 · DOI
  177. [185]Schmidt F, Kapellen TM, Wiegand S, et al. Diabetes mellitus in children and adolescents with genetic syndromes. Exp Clin Endocrinol Diabetes. 2012; 120(10): 579‐ 585. doi: 10.1055/s-0032-1306330 22441723 · DOI
  178. [186]Patel KA, Ozbek MN, Yildiz M, et al. Systematic genetic testing for recessively inherited monogenic diabetes: a cross‐sectional study in paediatric diabetes clinics. Diabetologia. 2022; 65(2): 336‐ 342. doi: 10.1007/s00125-021-05597-y 34686905 PMC8741690 · DOI
  179. [187]Farmer A, Ayme S, de Heredia ML, et al. EURO‐WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet‐Biedl syndrome. BMC Pediatr. 2013; 13: 130. doi: 10.1186/1471-2431-13-130 23981649 PMC3765797 · DOI
  180. [188]Inoue H, Tanizawa Y, Wasson J, et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet. 1998; 20(2): 143‐ 148. doi: 10.1038/2441 9771706 · DOI
  181. [189]Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet. 1995; 346(8988): 1458‐ 1463. doi: 10.1016/s0140-6736(95)92473-6 7490992 · DOI
  182. [190]Marshall BA, Permutt MA, Paciorkowski AR, et al. Phenotypic characteristics of early Wolfram syndrome. Orphanet J Rare Dis. 2013; 8: 64. doi: 10.1186/1750-1172-8-64 23981289 PMC3651298 · DOI
  183. [191]Karzon R, Narayanan A, Chen L, Lieu JEC, Hershey T. Longitudinal hearing loss in Wolfram syndrome. Orphanet J Rare Dis. 2018; 13(1): 102. doi: 10.1186/s13023-018-0852-0 29945639 PMC6020390 · DOI
  184. [192]Bueno GE, Ruiz‐Castañeda D, Martínez JR, Muñoz MR, Alascio PC. Natural history and clinical characteristics of 50 patients with Wolfram syndrome. Endocrine. 2018; 61(3): 440‐ 446. doi: 10.1007/s12020-018-1608-2 29728875 · DOI
  185. [193]de Heredia ML, Cleries R, Nunes V. Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype. Genet Med. 2013; 15(7): 497‐ 506. doi: 10.1038/gim.2012.180 23429432 · DOI
  186. [194]Zmyslowska A, Borowiec M, Fichna P, et al. Delayed recognition of Wolfram syndrome frequently misdiagnosed as type 1 diabetes with early chronic complications. Exp Clin Endocrinol Diabetes. 2014; 122(1): 35‐ 38. doi: 10.1055/s-0033-1357160 24464595 · DOI
  187. [195]Khanim F, Kirk J, Latif F, Barrett TG. WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. Hum Mutat. 2001; 17(5): 357‐ 367. doi: 10.1002/humu.1110 11317350 · DOI
  188. [196]Fonseca SG, Ishigaki S, Oslowski CM, et al. Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells. J Clin Invest. 2010; 120(3): 744‐ 755. doi: 10.1172/JCI39678 20160352 PMC2827948 · DOI
  189. [197]Abreu D, Stone SI, Pearson TS, et al. A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome. JCI Insight. 2021; 6(15): 145188. doi: 10.1172/jci.insight.145188 PMC8410026 34185708 · DOI
  190. [198]Amr S, Heisey C, Zhang M, et al. A homozygous mutation in a novel zinc‐finger protein, ERIS, is responsible for Wolfram syndrome 2. Am J Hum Genet. 2007; 81(4): 673‐ 683. doi: 10.1086/520961 17846994 PMC2227919 · DOI
  191. [199]Bingham C, Hattersley AT. Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor‐1beta. Nephrol Dial Transplant. 2004; 19(11): 2703‐ 2708. doi: 10.1093/ndt/gfh348 15496559 · DOI
  192. [200]Ulinski T, Lescure S, Beaufils S, et al. Renal phenotypes related to hepatocyte nuclear factor‐1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol. 2006; 17(2): 497‐ 503. doi: 10.1681/ASN.2005101040 16371430 · DOI
  193. [201]Madariaga L, Garcia‐Castano A, Ariceta G, et al. Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract. Clin Kidney J. 2019; 12(3): 373‐ 379. doi: 10.1093/ckj/sfy102 31198537 PMC6543961 · DOI
  194. [202]Dubois‐Laforgue D, Cornu E, Saint‐Martin C, et al. Diabetes, associated clinical Spectrum, Long‐term prognosis, and genotype/phenotype correlations in 201 adult patients with hepatocyte nuclear factor 1B (HNF1B) molecular defects. Diabetes Care. 2017; 40(11): 1436‐ 1443. doi: 10.2337/dc16-2462 28420700 · DOI
  195. [203]Edghill EL, Bingham C, Ellard S, Hattersley AT. Mutations in hepatocyte nuclear factor‐1beta and their related phenotypes. J Med Genet. 2006; 43(1): 84‐ 90. doi: 10.1136/jmg.2005.032854 15930087 PMC2564507 · DOI
  196. [204]Raile K, Klopocki E, Holder M, et al. Expanded clinical spectrum in hepatocyte nuclear factor 1b‐maturity‐onset diabetes of the young. J Clin Endocrinol Metab. 2009; 94(7): 2658‐ 2664. doi: 10.1210/jc.2008-2189 19417042 · DOI
  197. [205]Bellanne‐Chantelot C, Chauveau D, Gautier J‐F, et al. Clinical Spectrum associated with hepatocyte nuclear Factor‐1{beta} mutations. Ann Intern Med. 2004; 140(7): 510‐ 517. 15068978
  198. [206]Pearson ER, Badman MK, Lockwood CR, et al. Contrasting diabetes phenotypes associated with hepatocyte nuclear factor‐1alpha and ‐1beta mutations. Diabetes Care. 2004; 27(5): 1102‐ 1107. doi: 10.2337/diacare.27.5.1102 15111528 · DOI
  199. [207]Tjora E, Wathle G, Erchinger F, et al. Exocrine pancreatic function in hepatocyte nuclear factor 1beta‐maturity‐onset diabetes of the young (HNF1B‐MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas. Diabet Med. 2013; 30(8): 946‐ 955. doi: 10.1111/dme.12190 23600988 · DOI
  200. [208]Haldorsen IS, Vesterhus M, Raeder H, et al. Lack of pancreatic body and tail in HNF1B mutation carriers. Diabet Med. 2008; 25(7): 782‐ 787. doi: 10.1111/j.1464-5491.2008.02460.x 18644064 · DOI

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Authors
Greeley, S. A. W., Polak, M., Njølstad, P. R., Barbetti, F., Williams, R., Castano, L., Raile, K., Chi, D. V., Habeb, A., Hattersley, A. T., & Codner, E.
Affiliations
  • University of Chicago (US)
  • Hôpital Necker-Enfants Malades (FR)
  • Haukeland University Hospital (NO)
  • Bambino Gesù Children's Hospital (IT)
  • National Severe Insulin Resistance Service Cambridge University Hospitals NHS Trust Cambridge UK
  • Endocrinology and Diabetes Research Group, Biocruces Bizkaia Health Research Institute Cruces University Hospital, CIBERDEM, CIBERER, Endo‐ERN, UPV/EHU Barakaldo Spain
  • Charité – Universitätsmedizin Berlin (DE)
  • Center for Endocrinology, Metabolism, Genetics and Molecular Therapy, Departement of Pediatric Endocrinology and Diabetes Vietnam National Children's Hospital Hanoi Vietnam
  • National Guard Health Affairs (SA)
  • University of Exeter (GB)
  • Institute of Maternal and Child Research School of Medicine, University of Chile Santiago Chile
Corresponding author
Greeley, Siri Atma W.
ORCID
Venue
Pediatric Diabetes
Publisher
Wiley
Published
2022-12
Volume
23
Issue
8
Pages
1188-1211
ISSN
  • 1399-543X (ISSN-L)
  • 1399-5448
DOI
10.1111/pedi.13426
PMC
PMC10107883
OpenAlex
W4311973322
Cited by
211
References
7
Citations by year
2026: 64 · 2025: 51 · 2024: 59 · 2023: 26 · 2022: 5 · 2021: 1 · 2020: 1 · 2019: 1 · 2018: 2 · 2017: 1
FWCI
21.27
Type
journal article
Language
en
Open access
Licence
Locations
  • Pediatric Diabetes (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
Funders
  • Novo Nordisk Fonden (NNF18OC0054741)
  • National Institute of Diabetes and Digestive and Kidney Diseases (R01DK104942)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
  • Health Sciences › Medicine › Surgery › Pancreatic function and diabetes
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes Management and Research
Keywords
monogenic diabetes, children and adolescents, diagnosis, management, diabetes mellitus
MeSH terms
Adolescent, Child, Diabetes Mellitus, Type 2, Humans, Mutation, Consensus

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