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 haplo-types, 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 β-cells and neurons.
Original language | English (US) |
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Pages (from-to) | 143-148 |
Number of pages | 6 |
Journal | Nature genetics |
Volume | 20 |
Issue number | 2 |
DOIs | |
State | Published - 1998 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics