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Large Family With Maturity‐Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A
Author(s) -
Monney Carole T.,
Kaltenrieder Valérie,
Cousin Pascal,
Bonny Christophe,
Schorderet Daniel F.
Publication year - 2002
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9050
Subject(s) - missense mutation , maturity onset diabetes of the young , diabetes mellitus , biology , mutation , genetics , age of onset , gene , medicine , endocrinology , disease
Maturity‐onset diabetes of the young (MODY) is a subtype of early‐onset diabetes mellitus which is characterized by autosomal dominant inheritance. Several genes are known to induce MODY : HNF4A/MODY1, GCK/MODY2, TCF1/MODY3, IPF1/MODY4, TCF2/MODY5 and NEUROD1/MODY6. We studied a Swiss family with 13 diabetic patients over 3 generations. The average age at diagnosis was 35 ± 15 years (7 subjects before 30). In addition, 2 individuals had an abnormal oral glucose tolerance. The mutation present in this family was located in the DNA binding domain of HNF4A, a strongly conserved region across almost all species, and segregated in all the MODY patients. Identification of this missense mutation allowed for presymptomatic diagnosis in the younger generations and will improve medical follow‐up of the predisposed individuals. © 2002 Wiley‐Liss, Inc.

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