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Article

Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing.

European journal of human genetics : EJHG - 1 Sept 1999

Miedzybrodzka Z, Hattersley A T, Ellard S, Pearson D, de Silva D, Harvey R, Haites N

Abstract excerpt

The most common cause of maturity-onset diabetes of the young (MODY) is a mutation in the hepatic nuclear factor 1alpha (HNF1alpha) gene (MODY3). We describe a family in which a missense mutation causing a Thr-Ile substitution at codon 620 has been found in all affected members. The mutation is not fully penetrant as two family members aged 87 and 46 have the mutation but do not have diabetes. The severity and...

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Identifiers

PMID: 10482964
DOI: 10.1038/sj.ejhg.5200358

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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