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Article

A novel ABCC8 mutation illustrates the variability of the diabetes phenotypes associated with a single mutation.

Diabetes & metabolism - 1 Apr 2012

Klee P, Bellanné-Chantelot C, Depret G, Llano J P, Paget C, Nicolino M

Abstract excerpt

AIM: ATP-sensitive potassium channels are important regulators of insulin secretion. They consist of four sulphonylurea receptor (encoded by ABCC8) and four inwardly rectifying protein (encoded by KCNJ11) subunits. Activating ABCC8 mutations lead to decreased insulin secretion and to diabetes. Wide phenotype variability is associated with single ABCC8 mutations, ranging from transient or permanent neonatal...

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Share to ATP-Binding Cassette Transporters
Share to Diabetes Mellitus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, Inborn

Share to Mutation, Missense

Share to Potassium Channels

Share to Potassium Channels, Inwardly Rectifying

Share to Receptors, Drug

Share to Sulfonylurea Receptors

Source

Identifiers

PMID: 22326206
DOI: 10.1016/j.diabet.2011.12.001

Genes

ABCC8
KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

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A novel ABCC8 mutation illustrates the variability of the diabetes phenotypes associated with a single mutation.PMID 22326206Read ↗

Transient neonatal diabetes due to a disease causing novel variant in the ATP-binding cassette subfamily C member 8 (ABCC8) gene unmasks maturity-onset diabetes of the young (MODY) diabetes cases within a family.Semantic proximity Read ↗

Heterozygous ABCC8 mutations are a cause of MODY.Semantic proximity Read ↗

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

The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.Semantic proximity Read ↗

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.Semantic proximity Read ↗

Clinical presentation and long-term outcome of patients with KCNJ11/ABCC8 variants: Neonatal diabetes or MODY in the DPV registry from Germany and Austria.Semantic proximity Read ↗

Neonatal diabetes mellitus due to a novel ABCC8 gene mutation mimicking an organic acidemia.Semantic 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 ↗

The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance.Semantic proximity Read ↗

The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene.Semantic proximity Read ↗

Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review.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 ↗

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