Noorian Shahab, Savad Shahram, Mohammadi Davood Shah
J Pediatr Endocrinol Metab. 2016 May 1;29(5):607-9. doi: 10.1515/jpem-2015-0045.
Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder, which is mostly caused by mutations in the WFS1 gene. The WFS1 gene product, which is called wolframin, is thought to regulate the function of endoplasmic reticulum. The endoplasmic reticulum has a critical role in protein folding and material transportation within the cell or to the surface of the cell. Identification of new mutations in WFS1 gene will unravel the molecular pathology of WS. The aim of this case report study is to describe a novel mutation in exon 4 of the WFS1 gene (c.330C>A) in a 9-year-old boy with WS.
沃夫勒姆综合征是一种罕见的常染色体隐性神经退行性疾病，主要由WFS1基因突变引起。WFS1基因产物称为沃尔弗拉姆蛋白，被认为可调节内质网的功能。内质网在细胞内蛋白质折叠以及物质运输至细胞内或细胞表面的过程中起着关键作用。鉴定WFS1基因中的新突变将揭示沃夫勒姆综合征的分子病理学。本病例报告研究的目的是描述一名9岁患有沃夫勒姆综合征男孩的WFS1基因第4外显子中的一种新突变（c.330C>A）。
