Cited by 243Pancreatic function and diabetesDiabetes and associated disordersGenomics and Rare Diseases

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Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

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Kapoor, Ritika R, Flanagan, Sarah E, Arya, Ved Bhushan, Shield, Julian P, Ellard, Sian, Hussain, Khalid·2013·European Journal of Endocrinology

DOI 10.1530/eje-12-0673PMC PMC3599069

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Abstract

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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Self-citation
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Self-citation
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Self-citation
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Self-citation
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Self-citation
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See all 243

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
ORCID: Kapoor, Ritika R
Flanagan, Sarah E
Arya, Ved Bhushan
Ellard, Sian
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
DOI: 10.1530/eje-12-0673
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
Licence: cc-by-nc
www.bioscientifica.com/journals/reuselicenceeje/ (unspecified)
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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Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

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