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

Hiroshi Inoue, Yukio Tanizawa, Jon Wasson, Philip Behn, Kamini Kalidas, Ernesto Bernal-Mizrachi, Mike Mueckler, Helen Marshall, Helen Donis-Keller, Patricia Crock, Douglas Rogers, Masahiko Mikuni, Hisashi Kumashiro, Koichiro Higashi, Gen Sobue, Yoshitomo Oka, M. Alan Permutt

Research output: Contribution to journalArticle

513 Scopus citations

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 languageEnglish (US)
Pages (from-to)143-148
Number of pages6
JournalNature genetics
Volume20
Issue number2
DOIs
StatePublished - Oct 15 1998
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Inoue, H., Tanizawa, Y., Wasson, J., Behn, P., Kalidas, K., Bernal-Mizrachi, E., Mueckler, M., Marshall, H., Donis-Keller, H., Crock, P., Rogers, D., Mikuni, M., Kumashiro, H., Higashi, K., Sobue, G., Oka, Y., & Alan Permutt, M. (1998). A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nature genetics, 20(2), 143-148. https://doi.org/10.1038/2441