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Article

Divergent phenotypes in siblings with identical novel mutations in the HNF-1α gene leading to maturity onset diabetes of the young type 3.

BMC medical genetics - 4 May 2016

Knebel Birgit, Mack Susanne, Haas Jutta, Herman-Friede Mona Kathrin, Lange Simone, Schubert Oliver, Kotzka Jorg, Muller-Wieland Dirk

Abstract excerpt

BACKGROUND: Maturity onset diabetes of the young (MODY) is an autosomal dominant form of non-insulin-dependent diabetes mellitus caused by mutations in at least 13 different genes. The hepatocyte nuclear factor (HNF)-1α gene is affected in the most common form (HNF1A-MODY [MODY3]). CASE PRESENTATION: We describe the co-inheritance of a novel heterozygous missense mutation c.1761C > G (p.Pro588Ala) with a novel...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27142837
DOI: 10.1186/s12881-016-0297-z
PMCID: PMC4855429

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Source receipt: pubmed, retrieved 7 Sept 2026.

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