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Article

Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism.

Journal of medical genetics - 1 Sept 2015

Carmody David, Park Soo-Young, Ye Honggang, Perrone Marie E, Alkorta-Aranburu G, Highland Heather M, Hanis Craig L, Philipson Louis H, Bell Graeme I, Greeley Siri Atma W

Abstract excerpt

BACKGROUND: Diabetes in neonates usually has a monogenic aetiology; however, the cause remains unknown in 20-30%. Heterozygous INS mutations represent one of the most common gene causes of neonatal diabetes mellitus. METHODS: Clinical and functional characterisation of a novel homozygous intronic mutation (c.187+241G>A) in the insulin gene in a child identified through the Monogenic Diabetes Registry...

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Identifiers

PMID: 26101329
DOI: 10.1136/jmedgenet-2015-103220
PMCID: PMC4744477

Genes

INS

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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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