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Article

The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.

The Journal of clinical endocrinology and metabolism - 1 Oct 2006

Giurgea Irina, Sempoux Christine, Bellanné-Chantelot Christine, Ribeiro Maria, Hubert Laurence, Boddaert Nathalie, Saudubray Jean-Marie, Robert Jean-Jacques, Brunelle Francis, Rahier Jacques, Jaubert Francis, Nihoul-Fékété Claire, de Lonlay Pascale

Abstract excerpt

BACKGROUND: Congenital hyperinsulinism (CHI) is associated with focal hyperplasia of endocrine tissue in 40-65% of patients. Focal CHI is sporadic and is caused by a germline, paternally inherited, mutation of the SUR1 (ABCC8) or KIR6.2 (KCNJ11) genes (encoding subunits of the pancreatic ATP-dependent potassium channel) together with somatic maternal haploinsufficiency for 11p15.5. Plurifocal or large forms of...

Read the complete abstract on PubMed

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Share to Congenital Hyperinsulinism
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Potassium Channels

Share to Potassium Channels, Inwardly Rectifying

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Source

Identifiers

PMID: 16882742
DOI: 10.1210/jc.2006-0397

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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