Large Family with Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A

被引：6

作者：

Monney, Carole T. ^{[1
]}

Kaltenrieder, Valerie ^{[1
]}

Cousin, Pascal ^{[1
]}

Bonny, Christophe ^{[1
]}

Schorderet, Daniel F. ^{[1
]}

机构：

[1] CHU Vaudois, Div Autonome Genet Med, CH-1011 Lausanne, Switzerland

来源：

HUMAN MUTATION | 2002年 / 20卷 / 03期

关键词：

MODY; HNF4A; non-insulin dependent diabetes mellitus; Swiss;

D O I：

10.1002/humu.9050

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2002 Wiley-Liss, Inc.

引用

页码：230 / 231

页数：6

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