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Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism
Open accessAbstract
Background: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in eight genes (ABCC8,KCNJ11,GLUD1,GCK,HADH,SLC16A1,HNF4A and HNF1A) are known to cause CHI. Aim: To characterise the clinical and molecular aspects of a large cohort of patients with CHI. Methodology: Three hundred patients were recruited and clinical information was collected before genotyping.ABCC8 and KCNJ11 genes were analysed in all patients. Mutations in GLUD1,HADH,GCK and HNF4A genes were sought in patients with diazoxide-responsive CHI with hyperammonaemia (GLUD1), raised 3-hydroxybutyrylcarnitine and/or consanguinity (HADH), positive family history (GCK) or when CHI was diagnosed within the first week of life (HNF4A). Results: Mutations were identified in 136/300 patients (45.3%). Mutations in ABCC8/KCNJ11 were the commonest genetic cause identified (n=109, 36.3%). Among diazoxide-unresponsive patients (n=105), mutations in ABCC8/KCNJ11 were identified in 92 (87.6%) patients, of whom 63 patients had recessively inherited mutations while four patients had dominantly inherited mutations. A paternal mutation in the ABCC8/KCNJ11 genes was identified in 23 diazoxide-unresponsive patients, of whom six had diffuse disease. Among the diazoxide-responsive patients (n=183), mutations were identified in 41 patients (22.4%). These include mutations in ABCC8/KCNJ11(n=15),HNF4A(n=7),GLUD1(n=16) and HADH(n=3). Conclusions: A genetic diagnosis was made for 45.3% of patients in this large series. Mutations in the ABCC8 gene were the commonest identifiable cause. The vast majority of patients with diazoxide-responsive CHI (77.6%) had no identifiable mutations, suggesting other genetic and/or environmental mechanisms.
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“A rare pathogenic variant in ABCC8 that causes congenital hyperinsulinism was incorrectly genotyped as homozygous in 43% (9/21) of individuals.”
From Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation (2021) · cites this paper as [29]
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“A rare pathogenic variant in ABCC8 that causes congenital hyperinsulinism [29] is incorrectly genotyped in 43% (9/21) of individuals.”
From Assessing the analytical validity of SNP-chips for detecting very rare pathogenic variants: implications for direct-to-consumer genetic testing (2019) · cites this paper as [29]
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Thomas, P. M., Cote, G. J., Wohllk, N., Haddad, B., Mathew, P. M., Rabl, W., Aguilar-Bryan, L., Gagel, R. F., & Bryan, J. (1995) · Science · doi:10.1126/science.7716548 · Cited by 806
Molecular Biology of Adenosine Triphosphate-Sensitive Potassium Channels
Aguilar‐Bryan, L., & Bryan, J. (1999) · Endocrine Reviews · doi:10.1210/edrv.20.2.0361 · Cited by 698
Adenosine Diphosphate as an Intracellular Regulator of Insulin Secretion
Nichols, C. G., Shyng, S., Nestorowicz, A., Gläser, B., Clement, J. P., González, G., Aguilar‐Bryan, L., Permutt, M. A., & Bryan, J. (1996) · Science · doi:10.1126/science.272.5269.1785 · Cited by 525
Thomas, P. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.11.1809 · Cited by 443
Pearson, E. R., Boj, S. F., Steele, A. M., Barrett, T. G., Stals, K. L., Hamilton-Shield, J. P., Ellard, S., Ferrer, J. P., & Hattersley, A. T. (2007) · PLoS Medicine · doi:10.1371/journal.pmed.0040118 · Cited by 436
Self-citationClayton, P. T., Eaton, S. D., Aynsley-Green, A., Edginton, M., Hussain, K., Krywawych, S., Datta, V., Malingré, H. E. M., Berger, R., & van den Berg, I. E. T. (2001) · Journal of Clinical Investigation · doi:10.1172/jci200111294 · Cited by 311
Self-citationClinical features of 52 neonates with hyperinsulinism.
de Lonlay-Debeney, P., Poggi-Travert, F., Fournet, J., Sempoux, C., Vici, C., Brunelle, F., Touati, G., Rahier, J., Junien, C., Nihoul-Fékété, C., et al. (1999) · New England Journal of Medicine · doi:10.1056/nejm199904153401505 · Cited by 306
Practical management of hyperinsulinism in infancy
Aynsley-Green, A., Hussain, K., Hall, J., Saudubray, J., Nihoul‐Feketé, C., de Lonlay, P., Brunelle, F., Otonkoski, T., Thornton, P., & Lindley, K. J. (2000) · Archives of Disease in Childhood Fetal & Neonatal · doi:10.1136/fn.82.2.f98 · Cited by 298
Self-citationVerkarre, V., Fournet, J., de Lonlay, P., Gross, M., Devillers, M., Rahier, J., Brunelle, F., Robert, J., Nihoul‐Feketé, C., Saudubray, J., et al. (1998) · Journal of Clinical Investigation · doi:10.1172/jci4495 · Cited by 289
Regulation of KATP Channel Activity by Diazoxide and MgADP
Shyng, S.-L., Ferrigni, T., & Nichols, C. G. (1997) · The Journal of General Physiology · doi:10.1085/jgp.110.6.643 · Cited by 282
Research works printed but not linked: 1
- 2004, Molecular genetics and metabolism, 81, S45
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Genetic Analysis of Italian Patients with Congenital Hyperinsulinism of Infancy
Valin, P. S., Proverbio, M. C., Diceglie, C., Gessi, A., Candia, S. D., Mariani, B., Zamproni, I., Mangano, E., Asselta, R., Battaglia, C., et al. (2013) · Hormone Research in Paediatrics · doi:10.1159/000350827 · Cited by 552
Franco, E. D., Saint‐Martin, C., Brusgaard, K., Johnson, A. E. K., Aguilar‐Bryan, L., Bowman, P., Arnoux, J., Larsen, A. R., Sanyoura, M., Greeley, S. A. W., et al. (2020) · Human Mutation · doi:10.1002/humu.23995 · Cited by 181
“Mutations in these two genes together account for 36–70% of CHI cases (Kapoor et al., 2013; Snider et al., 2013).”
BackgroundSelf-citationCongenital Hyperinsulinism: Diagnosis and Treatment Update
Demirbilek, H., & Hussain, K. (2018) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.2017.s007 · Cited by 173
“HH can be transient due to certain risk factors, such as birth asphyxia, intra-uterine growth retardation, maternal diabetes mellitus (5), or associated with various overgrowth syndromes like Beckwith-Wiedemann syndrome or metabolic conditions such as congenital disorders of glycosylation (6).”
BackgroundInfluentialSelf-citationCongenital hyperinsulinism: current status and future perspectives
Yorifuji, T. (2014) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2014.19.2.57 · Cited by 156
Therapies and outcomes of congenital hyperinsulinism‐induced hypoglycaemia
Banerjee, I., Salomon‐Estebanez, M., Shah, P., Nicholson, J., Cosgrove, K. E., & Dunne, M. J. (2018) · Diabetic Medicine · doi:10.1111/dme.13823 · Cited by 142
Metadata
- Authors
- Kapoor, R. R., Flanagan, S. E., Arya, V. B., Shield, J. P., Ellard, S., & Hussain, K.
- Affiliations
- Great Ormond Street Hospital (GB)
- University of Exeter (GB)
- Corresponding author
- Hussain, Khalid
- Venue
- European Journal of Endocrinology
- Publisher
- Oxford University Press (OUP)
- Published
- 2013-04
- Volume
- 168
- Issue
- 4
- Pages
- 557-564
- ISSN
- 0804-4643 (ISSN-L)
- 1479-683X
- PMC
- PMC3599069
- OpenAlex
- W2111189973
- Semantic Scholar
- 1a21aa2a4c44a96603182b698464b7e013b7884f
- Cited by
- 243
- References
- 81
- Citations by year
- 2026: 14 · 2025: 12 · 2024: 17 · 2023: 19 · 2022: 25 · 2021: 23 · 2020: 21 · 2019: 20 · 2018: 13 · 2017: 12 · 2016: 12 · 2015: 27 · 2014: 22 · 2013: 6
- FWCI
- 22.03
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- European Journal of Endocrinology (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Bristol Research (University of Bristol) (submittedVersion)
- Funders
- Wellcome Trust (081188/A/06/Z)
- Society for Endocrinology
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pancreatic function and diabetes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- congenital hyperinsulinism, ABCC8, KCNJ11, HNF4α, GLUD1, hydroxyacyl-CoA dehydrogenase, glucokinase, MCT1, genetic diagnosis, recessive inheritance, paternal mutations, diffuse hyperinsulinism, hyperammonemia, consanguinity, genotype-phenotype correlation
- MeSH terms
- Kcnj11 Channel, Diazoxide, Female, Humans, Infant, Infant, Newborn, Male, Mutation, Receptors, Drug, Cohort Studies, ATP-Binding Cassette Transporters, Potassium Channels, Inwardly Rectifying, Congenital Hyperinsulinism, Sulfonylurea Receptors
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