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- Title
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).
- Authors
Inoue, Hiroshi; Tanizawa, Yukio; Wasson, Jon; Behn, Philip; Kalidas, Kamini; Bernal-Mizrachi, Ernesto; Mueckler, Mike; Marshall, Helen; Donis-Keller, Helen; Crock, Patricia; Rogers, Douglas; Mikuni, Masahiko; Kumashiro, Hisashi; Higashi, Koichiro; Sobue, Gen; Oka, Yoshitomo; Permutt, M. Alan
- Abstract
Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy. Linkage to markers on chromosome 4p was confirmed in five families. On the basis of meiotic recombinants and disease-associated haplotypes, the WFS gene was localized to a BAC/P1 contig of less than 250 kb. Mutations in a novel gene (WFS1) encoding a putative transmembrane protein were found in all affected individuals in six WFS families, and these mutations were associated with the disease phenotype. WFS1 appears to function in survival of islet ß-cells and neurons.
- Subjects
NEURODEGENERATION; CHROMOSOMES
- Publication
Nature Genetics, 1998, Vol 20, Issue 2, p143
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/2441