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

Details

Serval ID
serval:BIB_28BBECCB909F
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A
Journal
Human Mutation
Author(s)
Monney  C. T., Kaltenrieder  V., Cousin  P., Bonny  C., Schorderet  D. F.
ISSN
1098-1004 (Electronic)
Publication state
Published
Issued date
09/2002
Volume
20
Number
3
Pages
230-1
Notes
Journal Article --- Old month value: Sep
Abstract
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.
Keywords
Adult Basic Helix-Loop-Helix Leucine Zipper Transcription Factors DNA/chemistry/genetics DNA Mutational Analysis *DNA-Binding Proteins Diabetes Mellitus, Type 2/*genetics/pathology Exons/genetics Family Health Female Hepatocyte Nuclear Factor 4 Humans Male Middle Aged Mutation, Missense Pedigree Phosphoproteins/*genetics Promoter Regions (Genetics)/genetics Transcription Factors/*genetics
Pubmed
Web of science
Open Access
Yes
Create date
28/01/2008 13:58
Last modification date
20/08/2019 14:08
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