Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth

Pihoker, Catherine; Gilliam, Lisa K.; Ellard, Sian; Dabelea, Dana; Davis, Cralen; Dolan, Lawrence M.; Greenbaum, Carla J.; Imperatore, Giuseppina; Lawrence, Jean M.; Marcovina, Santica M.; Mayer-Davis, Elizabeth; Rodriguez, Beatriz L.; Steck, Andrea K.; Williams, Desmond E.; Hattersley, Andrew T.; for the SEARCH for Diabetes in Youth Study Group

doi:10.1210/jc.2013-1279

Cited by 397Diabetes and associated disordersPancreatic function and diabetesDiabetes Management and Research

Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth

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Pihoker, Catherine, Gilliam, Lisa K., Ellard, Sian, Dabelea, Dana, Davis, Cralen, Dolan, Lawrence M., Greenbaum, Carla J., Imperatore, Giuseppina +8 more·2013·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jc.2013-1279PMC PMC3790621

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Abstract

AIMS: Our study aims were to determine the frequency of MODY mutations (HNF1A, HNF4A, glucokinase) in a diverse population of youth with diabetes and to assess how well clinical features identify youth with maturity-onset diabetes of the young (MODY). METHODS: The SEARCH for Diabetes in Youth study is a US multicenter, population-based study of youth with diabetes diagnosed at age younger than 20 years. We sequenced genomic DNA for mutations in the HNF1A, HNF4A, and glucokinase genes in 586 participants enrolled in SEARCH between 2001 and 2006. Selection criteria included diabetes autoantibody negativity and fasting C-peptide levels of 0.8 ng/mL or greater. RESULTS: We identified a mutation in one of three MODY genes in 47 participants, or 8.0% of the tested sample, for a prevalence of at least 1.2% in the pediatric diabetes population. Of these, only 3 had a clinical diagnosis of MODY, and the majority was treated with insulin. Compared with the MODY-negative group, MODY-positive participants had lower FCP levels (2.2 ± 1.4 vs 3.2 ± 2.1 ng/mL, P < .01) and fewer type 2 diabetes-like metabolic features. Parental history of diabetes did not significantly differ between the 2 groups. CONCLUSIONS/INTERPRETATION: In this systematic study of MODY in a large pediatric US diabetes cohort, unselected by referral pattern or family history, MODY was usually misdiagnosed and incorrectly treated with insulin. Although many type 2 diabetes-like metabolic features were less common in the mutation-positive group, no single characteristic identified all patients with mutations. Clinicians should be alert to the possibility of MODY diagnosis, particularly in antibody-negative youth with diabetes.

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Atypical diabetes is becoming increasingly difficult to precisely define in the absence of a definitive set of tests for either type 1 or type 2 diabetes.
“although admittedly, atypical diabetes is becoming increasingly dif fi cult to precisely de fi ne in the absence of a de fi nitive set of tests for either type of diabetes (158 -160,163 -169)”
From 2. Diagnosis and Classification of Diabetes: Standards of Care in Diabetes—2024 (2024) · cites this paper as [167]
The Discussion (page unavailable) says that type 2 diabetes-like characteristics could not distinguish individual youth with MODY from those without it, supporting a narrower point about diagnostic difficulty. It does not say that atypical diabetes is becoming harder to define or that definitive tests are lacking for both type 1 and type 2 diabetes. (LLM, conf=0.83)
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Ogden, C. L. (2002) · JAMA · doi:10.1001/jama.288.14.1728 · Cited by 4,060 · see citing works
National Health and Nutrition Examination Survey
Rothwell, C. J. (2009) · Springer eBooks · doi:10.1007/978-0-387-78665-0_6177 · Cited by 2,087 · see citing works
Incidence of diabetes in youth in the United States
SEARCH for Diabetes in Youth Study Group*, T. W. G. F. T. (2007) · JAMA · doi:10.1001/jama.297.24.2716 · Cited by 991 · cited 10× · see citing works
“Family history was not useful in differentiating MODY from MODY participants, nor was it useful in differentiating them from clinically diagnosed T2D participants (data not shown).”
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HLA DR-DQ Haplotypes and Genotypes and Type 1 Diabetes Risk
Erlich, H., Valdes, A. M., Noble, J., Carlson, J. A., Varney, M., Concannon, P., Mychaleckyj, J. C., Todd, J. A., Bonella, P., Fear, A. L., et al. (2008) · Diabetes · doi:10.2337/db07-1331 · Cited by 790 · see citing works
Familial Hyperglycemia Due to Mutations in Glucokinase -- Definition of a Subtype of Diabetes Mellitus
Froguel, P., Zouali, H., Vionnet, N., Velho, G., Vaxillaire, M., Sun, F., Lesage, S., Stoffel, M., Takeda, J., Passa, P., et al. (1993) · New England Journal of Medicine · doi:10.1056/nejm199303113281005 · Cited by 726 · see citing works
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SEARCH for Diabetes in Youth Study Group (2006) · Pediatrics · doi:10.1542/peds.2006-0690 · Cited by 726 · see citing works
Maturity-onset diabetes of the young (MODY): how many cases are we missing?
Shields, B. M., Hicks, S., Shepherd, M. H., Colclough, K., Hattersley, A. T., & Ellard, S. (2010) · Diabetologia · doi:10.1007/s00125-010-1799-4 · Cited by 725 · see citing works
Self-citation
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Pearson, E. R., Starkey, B. J., Powell, R. J., Gribble, F. M., Clark, P. M., & Hattersley, A. T. (2003) · The Lancet · doi:10.1016/s0140-6736(03)14571-0 · Cited by 607 · see citing works
Self-citation
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Stockman, J. A. (2008) · Yearbook of Pediatrics · doi:10.1016/s0084-3954(08)70503-7 · Cited by 595 · see citing works
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Murphy, R., Ellard, S., & Hattersley, A. T. (2008) · Nature Clinical Practice Endocrinology & Metabolism · doi:10.1038/ncpendmet0778 · Cited by 502 · see citing works
Self-citation
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Ellard, S., Bellanné‐Chantelot, C., Hattersley, A. T., & European Molecular Genetics Quality Network (EMQN) MODY group (2008) · Diabetologia · doi:10.1007/s00125-008-0942-y · Cited by 434 · see citing works
Self-citation
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Tattersall, R. B. (1974) · QJM · doi:10.1093/oxfordjournals.qjmed.a067391 · Cited by 357 · see citing works
ISPAD Clinical Practice Consensus Guidelines 2006?2007
Hanås, R., Donaghue, K. C., KLINGENSMITH, G. J., Swift, P. G. F., & Hanås, R. (2006) · Pediatric Diabetes · doi:10.1111/j.1399-5448.2006.00218.x · Cited by 324 · see citing works
Harmonization of glutamic acid decarboxylase and islet antigen-2 autoantibody assays for National Institute of Diabetes and Digestive and Kidney Diseases consortia
Bonifacio, E., Yu, L., Williams, A. K., Eisenbarth, G. S., Bingley, P. J., Marcovina, S. M., Adler, K., Ziegler, A. G., Mueller, P. W., Schatz, D. A., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-0293 · Cited by 291 · see citing works
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(2004) · Controlled Clinical Trials · doi:10.1016/j.cct.2004.08.002 · Cited by 268 · see citing works
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Shepherd, M., Shields, B. M., Ellard, S., Rubio‐Cabezas, O., & Hattersley, A. T. (2009) · Diabetic Medicine · doi:10.1111/j.1464-5491.2009.02690.x · Cited by 242 · see citing works
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Maldonado, M., Hampe, C. S., Gaur, L. K., D’Amico, S., Iyer, D., Hammerle, L. P., Bolgiano, D. C., Rodriguez, L., Rajan, A. S., Lernmark, Å., et al. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030180 · Cited by 236 · see citing works
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Pearson, E. R., Průhová, Š., Tack, C. J., Johansen, A., Castleden, H., Lumb, P. J., Wierzbicki, A. S., CLARK, P. M. S., Lebl, J., Pedersen, O. B., et al. (2005) · Diabetologia · doi:10.1007/s00125-005-1738-y · Cited by 231 · see citing works
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McDonald, T. J., Colclough, K., Brown, R., Shields, B. M., Shepherd, M. H., Bingley, P. J., Williams, A. J. K., Hattersley, A. T., & Ellard, S. (2011) · Diabetic Medicine · doi:10.1111/j.1464-5491.2011.03287.x · Cited by 231 · see citing works
Self-citation
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Frayling, T. M., Bulman, M. P., Ellard, S., Appleton, M., Dronsfield, M. J., Mackie, A. D. R., BAIRD, J. D., Kaisaki, P. J., Yamagata, K., Bell, G. I., et al. (1997) · Diabetes · doi:10.2337/diab.46.4.720 · Cited by 231 · see citing works
Self-citation
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ISPAD Clinical Practice Consensus Guidelines 2006?2007 The diagnosis and management of monogenic diabetes in children
Hattersley, A. T., Bruining, J., Hamilton-Shield, J. P., Njølstad, P. R., & Donaghue, K. C. (2006) · Pediatric Diabetes · doi:10.1111/j.1399-5448.2006.00217.x · Cited by 140 · see citing works
Self-citation
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Vaxillaire, M. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.4.583 · Cited by 139 · see citing works
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Besser, R. E. J., Shepherd, M. H., McDonald, T. J., Shields, B. M., Knight, B., Ellard, S., & Hattersley, A. T. (2011) · Diabetes Care · doi:10.2337/dc10-1293 · Cited by 133 · see citing works
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Rodríguez, B. L., Dabelea, D., Liese, A. D., Fujimoto, W. Y., Waitzfelder, B. E., Liu, L. L., Bell, R. A., Talton, J. W., Snively, B., Kershnar, A. K., et al. (2010) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2010.02.021 · Cited by 121 · see citing works
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Bjørkhaug, L., Sagen, J. V., Thorsby, P. M., Sövik, O., Molven, A., & Njølstad, P. R. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-020945 · Cited by 85 · see citing works
Identification of Mutations in the Hepatocyte Nuclear Factor (HNF)-1α Gene in Japanese Subjects With IDDM
Yamada, S., Nishigori, H., Onda, H., Utsugi, T., Yanagawa, T., Maruyama, T., Onigata, K., Nagashima, K., Nagai, R., Morikawa, A., et al. (1997) · Diabetes · doi:10.2337/diacare.46.10.1643 · Cited by 61 · see citing works
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Incidence of Childhood Diabetes in Children Aged Less than 15 Years and Its Clinical and Metabolic Characteristics at the Time of Diagnosis: Data from the Childhood Diabetes Registry of Saxony, Germany
Galler, A., Stange, T., Müller, G., Näke, A., Vogel, C., Kapellen, T. M., Bartelt, H., Kunath, H., Koch, R., Kieß, W., et al. (2010) · Hormone Research in Paediatrics · doi:10.1159/000303141 · Cited by 58 · see citing works
Identification of Novel Variants in the Hepatocyte Nuclear Factor-1α Gene in South Indian Patients with Maturity Onset Diabetes of Young
Radha, V., Ek, J., Anuradha, S., Hansen, T. F., Pedersen, O. B., & Mohan, V. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-2371 · Cited by 55 · see citing works
Asian MODY: are we missing an important diagnosis?
Porter, J. R., Rangasami, J. J., Ellard, S., Gloyn, A. L., Shields, B. M., Edwards, J., Anderson, J. M., Shaw, N. J., Hattersley, A. T., Frayling, T. M., et al. (2006) · Diabetic Medicine · doi:10.1111/j.1464-5491.2006.01958.x · Cited by 26 · see citing works
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Kleinberger, J. W., & Pollin, T. I. (2015) · Current Diabetes Reports · doi:10.1007/s11892-015-0681-7 · Cited by 128 · see citing works
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Chapla, A., Mruthyunjaya, M. D., Asha, H. S., Varghese, D., Varshney, M., Vasan, S. K., Venkatesan, P., Nair, V., Mathai, S., Paul, T. V., et al. (2014) · Clinical Endocrinology · doi:10.1111/cen.12541 · Cited by 127 · see citing works
Monogenic Diabetes: From Genetic Insights to Population-Based Precision in Care. Reflections From a Diabetes Care Editors’ Expert Forum
Riddle, M. C., Philipson, L. H., Rich, S. S., Carlsson, A., Franks, P. W., Greeley, S. A. W., Nolan, J. J., Pearson, E. R., Zeitler, P. S., & Hattersley, A. T. (2020) · Diabetes Care · doi:10.2337/dci20-0065 · Cited by 117 · see citing works
Self-citation
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Carlsson, A., Shepherd, M., Ellard, S., Weedon, M., Lernmark, Å., Forsander, G., Colclough, K., Brahimi, Q., Valtonen-Andre, C., Ivarsson, S. A., et al. (2020) · Diabetes Care · doi:10.2337/dc19-0747 · Cited by 111 · see citing works
Self-citation
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study, F. T. U., Shepherd, M. H., Shields, B. M., Hudson, M., Pearson, E. R., Hyde, C., Ellard, S., Hattersley, A. T., & Patel, K. A. (2018) · Diabetologia · doi:10.1007/s00125-018-4728-6 · Cited by 110 · see citing works
Self-citation
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Delvecchio, M., Mozzillo, E., Salzano, G., Iafusco, D., Frontino, G., Patera, P. I., Rabbone, I., Cherubini, V., Grasso, V., Tinto, N., et al. (2017) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-2490 · Cited by 109 · see citing works
Update on clinical screening of maturity-onset diabetes of the young (MODY)
Peixoto-Barbosa, R., Reis, A. F., & Giuffrida, F. M. A. (2020) · Diabetology & Metabolic Syndrome · doi:10.1186/s13098-020-00557-9 · Cited by 106 · see citing works
Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial
Kleinberger, J. W., Copeland, K. C., Gandica, R., Haymond, M. W., Levitsky, L. L., Linder, B. L., Shuldiner, A. R., Tollefsen, S. E., White, N. H., & Pollin, T. I. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.150 · Cited by 105 · see citing works
Personalized medicine in diabetes mellitus: current opportunities and future prospects
Kleinberger, J. W., & Pollin, T. I. (2015) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.12757 · Cited by 104 · see citing works
Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India
Mohan, V., Radha, V., Nguyen, T. T., Stawiski, E. W., Pahuja, K. B., Goldstein, L. D., Tom, J. A., Anjana, R. M., Kong-Beltran, M., Bhangale, T., et al. (2018) · BMC Medical Genetics · doi:10.1186/s12881-018-0528-6 · Cited by 101 · see citing works
Care of diabetes in children and adolescents: controversies, changes, and consensus
Cameron, F. J., & Wherrett, D. K. (2015) · The Lancet · doi:10.1016/s0140-6736(15)60971-0 · Cited by 99 · see citing works
Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options
Sanyoura, M., Philipson, L. H., & Naylor, R. N. (2018) · Current Diabetes Reports · doi:10.1007/s11892-018-1024-2 · Cited by 96 · see citing works
Understanding diabetes heterogeneity: key steps towards precision medicine in diabetes
Leslie, R. D., Ronald, C. W., Franks, P. W., Nadeau, K. J., Pearson, E. R., & REDONDO, M. J. (2023) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(23)00159-6 · Cited by 99 · see citing works
Diagnosis, treatment and prevention of type 2 diabetes mellitus in children and adolescents
Serbis, A., Giapros, V. I., Kotanidou, E. P., Galli-Tsinopoulou, A., & Siomou, E. C. (2021) · World Journal of Diabetes · doi:10.4239/wjd.v12.i4.344 · Cited by 103 · see citing works
GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated
Carmody, D., Naylor, R. N., Bell, C. D., Berry, S., Montgomery, J. T., Tadie, E. C., Hwang, J. L., Greeley, S. A. W., & Philipson, L. H. (2016) · Acta Diabetologica · doi:10.1007/s00592-016-0859-8 · Cited by 84 · see citing works
Precision diabetes: Lessons learned from maturity‐onset diabetes of the young (MODY)
Tosur, M., & Philipson, L. H. (2022) · Journal of Diabetes Investigation · doi:10.1111/jdi.13860 · Cited by 83 · see citing works
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Laver, T. W., Wakeling, M. N., Knox, O., Colclough, K., Wright, C. F., Ellard, S., Hattersley, A. T., Weedon, M. N., & Patel, K. A. (2022) · Diabetes · doi:10.2337/db21-0844 · Cited by 74 · see citing works
Self-citation
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Amed, S., & Oram, R. A. (2016) · Canadian Journal of Diabetes · doi:10.1016/j.jcjd.2016.03.002 · Cited by 74 · see citing works
Genetics of Monogenic Diabetes: Present Clinical Challenges
Misra, S., & Owen, K. R. (2018) · Current Diabetes Reports · doi:10.1007/s11892-018-1111-4 · Cited by 72 · see citing works
Ramadan and Diabetes: A Narrative Review and Practice Update
Ahmed, S. H., Chowdhury, T. A., Hussain, S., Syed, A., Karamat, A., Helmy, A., Waqar, S., Ali, S., Dabhad, A., Seal, S. T., et al. (2020) · Diabetes Therapy · doi:10.1007/s13300-020-00886-y · Cited by 72 · see citing works
Functional Investigations ofHNF1AIdentify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population
Najmi, L. A., Aukrust, I., Flannick, J. A., Molnes, J., Burtt, N. P., Molven, A., Groop, L., Altshuler, D., Johansson, S., Bjørkhaug, L., et al. (2016) · Diabetes · doi:10.2337/db16-0460 · Cited by 69 · see citing works
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Miyachi, Y., Miyazawa, T., & Ogawa, Y. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23063222 · Cited by 63 · see citing works
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
on behalf of the Monogenic Diabetes Study Group of the Société Francophone du Diabète, Donath, X., Saint‐Martin, C., Dubois‐Laforgue, D., Rajasingham, R., Mifsud, F., Ciangura, C., Timsit, J., & Bellanné‐Chantelot, C. (2019) · BMC Medicine · doi:10.1186/s12916-019-1363-0 · Cited by 63 · see citing works
Characteristics of maturity onset diabetes of the young in a large diabetes center
Chambers, C., Fouts, A., Dong, F., Colclough, K., Wang, Z., Batish, S. D., Jaremko, M., Ellard, S., Hattersley, A. T., KLINGENSMITH, G. J., et al. (2015) · Pediatric Diabetes · doi:10.1111/pedi.12289 · Cited by 60 · see citing works
Self-citation
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Acerini, C. L., Craig, M. E., de Beaufort, C. E., Maahs, D. M., & Hanås, R. (2014) · Pediatric Diabetes · doi:10.1111/pedi.12182 · Cited by 59 · see citing works
A comprehensive map of human glucokinase variant activity
Gersing, S., Cagiada, M., Gebbia, M., Gjesing, A. P., Coté, A. G., Seesankar, G., Li, R., Tabet, D., Weile, J., Stein, A., et al. (2023) · Genome Biology · doi:10.1186/s13059-023-02935-8 · Cited by 55 · see citing works
ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): Clinical Features and Treatment Perspective
Ovsyannikova, A. K., Rymar, O. D., Шахтшнейдер, Е. В., Klimontov, V. V., Koroleva, E. A., Мякина, Н. Е., & Voevoda, M. I. (2016) · Diabetes Therapy · doi:10.1007/s13300-016-0192-9 · Cited by 58 · see citing works
The Role of Markers of Low-Grade Inflammation for the Early Time Course of Glycemic Control, Glucose Disappearance Rate, and β-Cell Function in Recently Diagnosed Type 1 and Type 2 Diabetes
Weber, K. S., Nowotny, B., Straßburger, K., Pacini, G., Müssig, K., Szendroedi, J., Herder, C., Roden, M., & for the GDS Group (2015) · Diabetes Care · doi:10.2337/dc15-0169 · Cited by 57 · see citing works
Self-citation
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Warncke, K., Kummer, S., Raile, K., Grulich-Henn, J., Woelfle, J., Steichen, E., Prinz, N., & Holl, R. W. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-01696 · Cited by 52 · see citing works
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Foteinopoulou, E., Clarke, C. A. L., Pattenden, R. J., Ritchie, S. A., McMurray, E. M., Reynolds, R. M., Arunagirinathan, G., Gibb, F. W., McKnight, J. A., & Strachan, M. W. J. (2021) · Diabetic Medicine · doi:10.1111/dme.14449 · Cited by 61 · see citing works
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Thomas, N. J., & Jones, A. G. (2023) · Diabetologia · doi:10.1007/s00125-023-06004-4 · Cited by 54 · see citing works
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Pang, L., Colclough, K., Shepherd, M. H., McLean, J., Pearson, E. R., Ellard, S., Hattersley, A. T., & Shields, B. M. (2022) · Diabetes Care · doi:10.2337/dc21-2056 · Cited by 51 · see citing works
Self-citation
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Lee, A. M., Fermin, C. R., Filipp, S. L., Gurka, M. J., & DeBoer, M. D. (2017) · Acta Diabetologica · doi:10.1007/s00592-016-0958-6 · Cited by 51 · see citing works
South Asian individuals with diabetes who are referred for MODY testing in the UK have a lower mutation pick-up rate than white European people
Misra, S., Shields, B. M., Colclough, K., Johnston, D. G., Oliver, N. S., Ellard, S., & Hattersley, A. T. (2016) · Diabetologia · doi:10.1007/s00125-016-4056-7 · Cited by 50 · see citing works
Self-citation
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Juszczak, A., Štambuk, T., Vučković, F., Bennett, A. J., Shah, N., Medvidović, E. P., Groves, C. J., Šekerija, M., Chandler, K. A., Burrows, C., et al. (2018) · Diabetes Care · doi:10.2337/dc18-0422 · Cited by 50 · see citing works
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Bishay, R. H., & Greenfield, J. R. (2016) · The Medical Journal of Australia · doi:10.5694/mja16.00458 · Cited by 50 · see citing works
Searching for maturity-onset diabetes of the young (MODY): when and what for?
Timsit, J., Saint-Martin, C., Dubois-Laforgue, D., & Bellanné-Chantelot, C. (2016) · Canadian Journal of Diabetes · doi:10.1016/j.jcjd.2015.12.005 · Cited by 55 · see citing works
Treatment of young patients with HNF1A mutations (HNF1A–MODY)
Raile, K., Schober, E., Konrad, K., Thon, A., Grulich‐Henn, J., Meissner, T., Woelfle, J., Scheuing, N., Holl, R. W., & the DPV Initiative the German BMBF Competence Network Diabetes Mellitus (2014) · Diabetic Medicine · doi:10.1111/dme.12662 · Cited by 48 · see citing works
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Ang, S. F., Lim, S. C., Tan, C., Fong, J. C. W., Kon, W. Y. C., Lian, J. X., Tavintharan, S., & Sum, C. F. (2016) · Diabetes Research and Clinical Practice · doi:10.1016/j.diabres.2016.06.008 · Cited by 48 · see citing works
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Johnson, S. R., Ellis, J. J., Leo, P. J., Anderson, L. K., Ganti, U., Harris, J. E., Curran, J. A., McInerney-Leo, A. M., Paramalingam, N., Song, X., et al. (2018) · Pediatric Diabetes · doi:10.1111/pedi.12766 · Cited by 48 · see citing works
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Christensen, A. S., Hædersdal, S., Støy, J., Storgaard, H., Kampmann, U., Forman, J. L., Seghieri, M., Holst, J. J., Hansen, T., Knop, F. K., et al. (2020) · Diabetes Care · doi:10.2337/dc20-0408 · Cited by 48 · see citing works
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Park, S. S., Jang, S. S., Ahn, C. H., Kim, J. H., Jung, H. S., Cho, Y. M., Lee, Y. A., Shin, C. H., Chae, J., Kim, J. H., et al. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-02397 · Cited by 46 · see citing works
Beta-cell destruction and preservation in childhood and adult onset type 1 diabetes
Poudel, A., Savari, O., Striegel, D. A., Periwal, V., Taxy, J. B., Millis, J. M., Witkowski, P., Atkinson, M. A., & Hara, M. (2015) · Endocrine · doi:10.1007/s12020-015-0534-9 · Cited by 45 · see citing works
Maturity Onset Diabetes of the Young—New Approaches for Disease Modelling
Skoczek, D., Dulak, J., & Kachamakova‐Trojanowska, N. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22147553 · Cited by 43 · see citing works
Challenges in diagnosis and management of diabetes in the young
Unnikrishnan, R., Shah, V. N., & Mohan, V. (2016) · Clinical Diabetes and Endocrinology · doi:10.1186/s40842-016-0036-6 · Cited by 47 · see citing works
Monogenic Diabetes in Youth With Presumed Type 2 Diabetes: Results From the Progress in Diabetes Genetics in Youth (ProDiGY) Collaboration
Todd, J. N., Kleinberger, J. W., Zhang, H., Srinivasan, S., Tollefsen, S. E., Levitsky, L. L., Katz, L. E. L., Tryggestad, J. B., Bacha, F. F., Imperatore, G., et al. (2021) · Diabetes Care · doi:10.2337/dc21-0491 · Cited by 42 · see citing works
Self-citation
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Vaxillaire, M., & Froguel, P. (2016) · Journal of Diabetes · doi:10.1111/1753-0407.12446 · Cited by 42 · see citing works
The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion
Murphy, R., Colclough, K., Pollin, T. I., Iklé, J. M., Svalastoga, P., Maloney, K. A., Saint‐Martin, C., Molnes, J., PMDI, A., Tobias, D. K., et al. (2023) · Communications Medicine · doi:10.1038/s43856-023-00369-8 · Cited by 42 · see citing works
Self-citation
Genetic testing for monogenic diabetes using targeted next-generation sequencing in patients with maturity-onset diabetes of the young
Szopa, M., Ludwig‐Słomczyńska, A. H., Radkowski, P., SKUPIEN, J. K., Zapała, B., Płatek, T., Klupa, T., Kieć‐Wilk, B., Borowiec, M., Mlynarski, W. M., et al. (2015) · Polskie Archiwum Medycyny Wewnętrznej · doi:10.20452/pamw.3164 · Cited by 40 · see citing works
How do I diagnose Maturity Onset Diabetes of the Young in my patients?
Colclough, K., & Patel, K. A. (2022) · Clinical Endocrinology · doi:10.1111/cen.14744 · Cited by 39 · see citing works
Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing
Anık, A., Çatlı, G., Abacı, A., Sarı, E., Yeşilkaya, E., Korkmaz, H. A., Demir, K., Altıncık, A., Tuhan, H., Kızıldağ, S., et al. (2015) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2014-0430 · Cited by 39 · see citing works
High Prevalence of a Monogenic Cause in Han Chinese Diagnosed With Type 1 Diabetes, Partly Driven by Nonsyndromic Recessive WFS1 Mutations
Li, M., Wang, S., Xu, K., Chen, Y., Fu, Q., Gu, Y., Shi, Y., Zhang, M., Sun, M., Chen, H., et al. (2019) · Diabetes · doi:10.2337/db19-0510 · Cited by 40 · see citing works
Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency
González, B. J., Zhao, H., Niu, J., Williams, D. J., Lee, J., Goulbourne, C. N., Xing, Y., Wang, Y., Oberholzer, J., Blumenkrantz, M., et al. (2022) · Communications Biology · doi:10.1038/s42003-022-03696-z · Cited by 39 · see citing works
Self-citation
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Yeung, R. O., Hannah‐Shmouni, F., Niederhoffer, K. Y., & Walker, M. A. (2018) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-018-9446-3 · Cited by 38 · see citing works
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Clinical utility gene card for: Maturity-onset diabetes of the young
Colclough, K., Saint‐Martin, C., Timsit, J., Ellard, S., & Bellanné‐Chantelot, C. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.14 · Cited by 37 · see citing works
Self-citation
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Yahaya, T., & Ufuoma, S. B. (2020) · Oman Medical Journal · doi:10.5001/omj.2020.44 · Cited by 37 · see citing works
Spectrum of Phenotypes and Causes of Type 2 Diabetes in Children
SHAH, A. S., Nadeau, K. J., Dabelea, D., & REDONDO, M. J. (2022) · Annual Review of Medicine · doi:10.1146/annurev-med-042120-012033 · Cited by 37 · see citing works
Self-citation
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Wang, Y., Zhang, J., Zhao, Y., Wang, S., Zhang, J., Han, Q., Zhang, R., Guo, R., Li, H., Li, L., et al. (2018) · Clinical Journal of the American Society of Nephrology · doi:10.2215/cjn.09100817 · Cited by 36 · see citing works
The Impact of Biomarker Screening and Cascade Genetic Testing on the Cost-Effectiveness of MODY Genetic Testing
GoodSmith, M. S., Skandari, M. R., Huang, E. S., & Naylor, R. N. (2019) · Diabetes Care · doi:10.2337/dc19-0486 · Cited by 36 · see citing works
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Broome, D. T., Tekin, Z., Pantalone, K. M., & Mehta, A. (2020) · Diabetes Care · doi:10.2337/dc20-0012 · Cited by 36 · see citing works
Advances in the Genetics of Youth-Onset Type 2 Diabetes
Todd, J. N., Srinivasan, S., & Pollin, T. I. (2018) · Current Diabetes Reports · doi:10.1007/s11892-018-1025-1 · Cited by 35 · see citing works
Malignant transformation of liver fatty acid binding protein-deficient hepatocellular adenomas: histopathologic spectrum of a rare phenomenon
Putra, J., Ferrell, L. D., Gouw, A. S. H., Paradis, V., Rishi, A., Sempoux, C. L., Balabaud, C. P., Thung, S. N., & Bioulac‐Sage, P. (2019) · Modern Pathology · doi:10.1038/s41379-019-0374-x · Cited by 34 · see citing works
Monogenic diabetes in adults: what are the new developments?
Owen, K. R. (2018) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2018.04.006 · Cited by 34 · see citing works
A review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase‐MODY
Bishay, R. H., & Greenfield, J. R. (2017) · The Medical Journal of Australia · doi:10.5694/mja16.01467 · Cited by 34 · see citing works
Challenges in the diagnosis of diabetes type in pediatrics
Siller, A. F., Tosur, M., Relan, S., Astudillo, M., McKay, S. V., Dabelea, D., & REDONDO, M. J. (2020) · Pediatric Diabetes · doi:10.1111/pedi.13070 · Cited by 33 · see citing works
Self-citation
Systematic Genetic Study of Youth With Diabetes in a Single Country Reveals the Prevalence of Diabetes Subtypes, Novel Candidate Genes, and Response to Precision Therapy
Stankutė, I., Verkauskienė, R., Blouin, J., Klee, P., Dobrovolskienė, R., Danytė, E., Dirlewanger, M., Santoni, F. A., Ražanskaitė-Virbickienė, D., Marčiulionytė, D., et al. (2020) · Diabetes · doi:10.2337/db19-0974 · Cited by 32 · see citing works
Practical Aspects of Monogenic Diabetes: A Clinical Point of View
Lachance, C.-H. (2016) · Canadian Journal of Diabetes · doi:10.1016/j.jcjd.2015.11.004 · Cited by 32 · see citing works

Characteristics of maturity onset diabetes of the young in a large diabetes center
Chambers, C., Fouts, A., Dong, F., Colclough, K., Wang, Z., Batish, S. D., Jaremko, M., Ellard, S., Hattersley, A. T., KLINGENSMITH, G. J., et al. (2015) · Pediatric Diabetes · doi:10.1111/pedi.12289 · Cited by 60 · see citing works
Self-citation
Clinical and laboratory clues of maturity‐onset diabetes of the young and determination of association with molecular diagnosis
Karaoğlan, M., & Nacarkahya, G. (2020) · Journal of Diabetes · doi:10.1111/1753-0407.13097 · Cited by 23 · see citing works
Low Prevalence of HNF1AMutations After Molecular Screening of Multiple MODY Genes in 58 Italian Families Recruited in the Pediatric or Adult Diabetes Clinic From a Single Italian Hospital
(2016)
Study of the frequency and clinical features of maturity-onset diabetes in the young in the pediatric and adolescent diabetes population in Iran
Zamanfar, D., Ferdosipour, F., Ebrahimi, P., Moghadam, M., Amoli, M. M., Asadi, M., & Monajati, M. (2022) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2022-0390 · Cited by 4 · see citing works
Half of Clinically Defined Maturity-Onset Diabetes of the Young Patients in Denmark Do Not Have Mutations inHNF4A,GCK, andTCF1
Johansen, A., Ek, J., Mortensen, H. B., Pedersen, O. B., & Hansen, T. F. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-0196 · Cited by 74 · see citing works

Authors: Pihoker, C., Gilliam, L. K., Ellard, S., Dabelea, D., Davis, C., Dolan, L. M., Greenbaum, C. J., Imperatore, G., Lawrence, J. M., Marcovina, S. M., Mayer-Davis, E., Rodriguez, B. L., Steck, A. K., Williams, D. E., Hattersley, A. T., & for the SEARCH for Diabetes in Youth Study Group
Affiliations: Seattle Children's Hospital (US)
University of Washington (US)
University of Exeter (GB)
Wake Forest University Health Sciences (US)
Cincinnati Children's Hospital Medical Center (US)
Benaroya Research Institute (US)
Centers for Disease Control and Prevention (US)
Kaiser Permanente (US)
Colorado School of Public Health (US)
Corresponding author: Pihoker, Catherine
ORCID: Pihoker, Catherine
Gilliam, Lisa K.
Ellard, Sian
Dabelea, Dana
Dolan, Lawrence M.
Greenbaum, Carla J.
Imperatore, Giuseppina
Lawrence, Jean M.
Marcovina, Santica M.
Steck, Andrea K.
Williams, Desmond E.
Hattersley, Andrew T.
Venue: The Journal of Clinical Endocrinology & Metabolism
Publisher: The Endocrine Society
Published: 2013-10
Volume: 98
Issue: 10
Pages: 4055-4062
ISSN: 0021-972X (ISSN-L)
1945-7197
DOI: 10.1210/jc.2013-1279
PMC: PMC3790621
OpenAlex: W2062206625
Cited by: 397
References: 34
Citations by year: 2026: 20 · 2025: 22 · 2024: 30 · 2023: 43 · 2022: 46 · 2021: 28 · 2020: 41 · 2019: 29 · 2018: 43 · 2017: 29 · 2016: 24 · 2015: 23 · 2014: 16 · 2013: 3
FWCI: 14.60
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: U.S. Department of Veterans Affairs (HIR 10-001)
National Institute for Health and Care Research (NF-SI-0611-10219)
National Institutes of Health (5ul1rr026314-03, UL1TR001082, UL1TR000077)
U.S. Public Health Service (PAS 00097, U58/CCU919256, U48/CCU519239, U48/CCU419249, U48/CCU819241-3, U48/CCU919219, U58 CCU019235-4)
National Institute of Diabetes and Digestive and Kidney Diseases (P30DK057516, P30 DK 57516)
National Center for Research Resources (UL1RR029882, M01 RR00069, UL1-RR026314, M01-RR 00037, UL1RR02631401, M01RR000069, M01RR000037)
National Center for Chronic Disease Prevention and Health Promotion (U01 DP-000247, U18 DP-002709, U18 DP-002708-01, U18-DP-002708, U01-DP000246, U01-DP-000250, U18 DP-000247-06A1, U01-DP-000254, U18 DP002714, U01DP000245, U18DP002710-01, U01 DP000248, DP-05069, U01DP000244, U18 DP002710, 1U18-DP-002709, DP-10001)
National Center for Advancing Translational Sciences
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: maturity-onset diabetes of the young, HNF1A, HNF4α, glucokinase, pediatric diabetes, misdiagnosis, insulin therapy, fasting C-peptide, SEARCH for Diabetes in Youth
MeSH terms: Adolescent, Child, Child, Preschool, Diabetes Mellitus, Type 2, DNA Mutational Analysis, Female, Glucokinase, Humans, Male, Mutation, Prevalence, Age of Onset, Hepatocyte Nuclear Factor 1-alpha, Hepatocyte Nuclear Factor 4, Young Adult

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Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth

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