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

  • 2002-08-31
Published in:
  • Human mutation. - 2002
Adult
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
DNA
DNA Mutational Analysis
DNA-Binding Proteins
Diabetes Mellitus, Type 2
Exons
Family Health
Female
Hepatocyte Nuclear Factor 4
Humans
Male
Middle Aged
Mutation, Missense
Pedigree
Phosphoproteins
Promoter Regions, Genetic
Transcription Factors
English 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.
Language
  • English
Open access status
bronze
Identifiers
Persistent URL
https://sonar.ch/global/documents/139166
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