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

doi:10.1038/2441

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 journal › Article

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 language	English (US)
Pages (from-to)	143-148
Number of pages	6
Journal	Nature genetics
Volume	20
Issue number	2
DOIs	https://doi.org/10.1038/2441
State	Published - Oct 15 1998
Externally published	Yes

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

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). / 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; Alan Permutt, M.

In: Nature genetics, Vol. 20, No. 2, 15.10.1998, p. 143-148.

Research output: Contribution to journal › Article

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, vol. 20, no. 2, pp. 143-148. https://doi.org/10.1038/2441

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 ; Alan Permutt, M. / A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). In: Nature genetics. 1998 ; Vol. 20, No. 2. pp. 143-148.

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AU - Kalidas, Kamini

AU - Bernal-Mizrachi, Ernesto

AU - Mueckler, Mike

AU - Marshall, Helen

AU - Donis-Keller, Helen

AU - Crock, Patricia

AU - Rogers, Douglas

AU - Mikuni, Masahiko

AU - Kumashiro, Hisashi

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