A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
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DOI：
10.1038/2441
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发表时间：
1998-10-01
期刊：
影响因子：
30.8
通讯作者：
Permutt, MA
中科院分区：
文献类型：
--
作者：
Inoue, H;Tanizawa, Y;Permutt, MA
沃尔夫拉姆综合征（WFS；OMIM 222300）是一种常染色体隐性神经退行性疾病，其特征为早发的非免疫性胰岛素依赖型糖尿病和进行性视神经萎缩。在5个家族中证实了与4号染色体短臂上的标记存在连锁。根据减数分裂重组体和疾病相关的单倍型，将WFS基因定位到一个小于250kb的细菌人工染色体/噬菌体P1重叠群上。在6个WFS家族的所有患者中发现了一个编码假定跨膜蛋白的新基因（WFS1）存在突变，并且这些突变与疾病表型相关。WFS1似乎在胰岛β细胞和神经元的存活中起作用。
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 beta-cells and neurons.