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Article

Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes.

Diabetes & metabolism - 1 Jun 2009

Hartemann-Heurtier A, Simon A, Bellanné-Chantelot C, Reynaud R, Cavé H, Polak M, Vaxillaire M, Grimaldi A

Abstract excerpt

Activating mutations in genes KCNJ11 and ABCC8, which form the ATP-sensitive K+channel (K(ATP) channel), have been shown to cause transient or permanent neonatal diabetes. We describe here a rather different phenotype: two cases of adult diabetic patients-considered and treated as insulin-dependent diabetic patients since adolescence-who, in fact, turned out to be heterozygous for an ABCC8 mutation and able to...

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Share to ATP-Binding Cassette Transporters
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diabetes Mellitus, Type 1

Share to Hepatocyte Nuclear Factor 1-alpha

Share to Infant, Newborn, Diseases

Share to Potassium Channels, Inwardly Rectifying

Share to Receptors, Drug

Share to Sulfonylurea Receptors

Source

Identifiers

PMID: 19342262
DOI: 10.1016/j.diabet.2009.01.003

Genes

ABCC8
KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes.PMID 19342262Read ↗

First Report of Diabetes Phenotype due to a Loss‐of‐Function ABCC8 Mutation Previously Known to Cause Congenital HyperinsulinismSemantic proximity Read ↗

Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.Semantic proximity Read ↗

Sulfonylurea-responsive neonatal diabetes mellitus diagnosed through molecular genetics in two children and in one adult after a long period of insulin treatment.Semantic proximity Read ↗

Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype.Semantic proximity Read ↗

A novel mutation in ABCC8 gene in a newborn with congenital hyperinsulinism -a case report.Semantic proximity Read ↗

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.Semantic proximity Read ↗

Permanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report.Semantic proximity Read ↗

A novel ABCC8 mutation illustrates the variability of the diabetes phenotypes associated with a single mutation.Semantic proximity Read ↗

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Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.Semantic proximity Read ↗

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Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.Semantic proximity Read ↗

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