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Article

A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism.

American journal of medical genetics. Part A - 1 Aug 2022

Reyes Diaz Jacqueline V, Jin Yulin, Garber Kathryn, Cossen Kristina M, Li Yujing, Jin Peng, Li Hong, Ham Jee-Young Nina

Abstract excerpt

Congenital hyperinsulinism (CHI) is genetically heterogeneous, caused by pathogenic variants in multiple known genes regulating insulin secretion from the pancreatic β-cells. The ABCC8 gene encodes the sulfonylurea receptor 1 (SUR1), a key player in insulin secretion, and pathogenic variants in ABCC8 are the most common cause of CHI. With increased application of genetic testing in clinical practice, variants of...

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Identifiers

PMID: 35621279
DOI: 10.1002/ajmg.a.62843

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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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