PubMed:9771706 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/9771706","sourcedb":"PubMed","sourceid":"9771706","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/9771706","text":"A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).\nWolfram 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. 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