Article
Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.
Human mutation - 1 Jan 2005
Giuliano Fabienne, Bannwarth Sylvie, Monnot Sophie, Cano Aline, Chabrol Brigitte, Vialettes Bernard, Delobel Bruno, Paquis-Flucklinger Veronique
Abstract excerpt
Wolfram syndrome (WS), a rare autosomal recessive neurodegenerative disorder, results in most cases from mutations in the WFS1 gene. In this study, a total of 19 patients with Wolfram syndrome and 36 relatives from 17 families were screened for mutations in the WFS1 gene. WFS1 mutations were identified on both alleles in 16 of 19 patients and on 1 allele of 3 patients, showing that WFS1 is the major gene involved...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Cohort Studies
- DNA Mutational Analysis
- Female
- France
- Humans
- Male
- Membrane Proteins