A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

H Inoue, Y Tanizawa, J Wasson, P Behn, K Kalidas… - Nature …, 1998 - nature.com
H Inoue, Y Tanizawa, J Wasson, P Behn, K Kalidas, E Bernal-Mizrachi, M Mueckler…
Nature genetics, 1998nature.com
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 …
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.
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