【摘 要】
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Background: Wolfram syndrome(WS) is a rare, progressive, neurodegenerative disorder with an autosomal recessive pattern of inheritance, characterized by diabetes insipidus, diabetes mellitus, optic at
【机 构】
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生物技术系,基础医学院,南京医科大学,南京,210029
【出 处】
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第六届全国生物信息学与系统生物学学术大会暨国际生物信息学前沿研讨会
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Background: Wolfram syndrome(WS) is a rare, progressive, neurodegenerative disorder with an autosomal recessive pattern of inheritance, characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.The gene for WS, WFS1, is identified on human chromosome 4p16, encoding a transmembrane protein, if mutated, which can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38.Most WS patients carry mutations in this gene, and ~162 mutations in WFS1 have been confirmed to date, in which non-synonymous single nucleotide polymorphisms(nsSNPs) are the most common forms of genetic variations.Nonetheless, there is poor knowledge on the relationship between the geno-type and function of nsSNPs in the other single amino acid substitutions of the WFS1 gene.
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