WFS1 mutations in Spanish patients with diabetes mellitus and deafness
WFS1 mutations in Spanish patients with diabetes mellitus and deafness
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DOI：
10.1038/sj.ejhg.5200823
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发表时间：
2002-07-01
影响因子：
5.2
通讯作者：
Nunes, V
中科院分区：
文献类型：
--
作者：
Domènech, E;Gómez-Zaera, M;Nunes, V
Wolfram综合征（WS）是一种常染色体隐性神经退行性疾病，以早发性糖尿病和进行性视神经萎缩为特征，同时伴有耳聋、尿崩症、肾道异常和多种精神疾病等临床特征。在4p16.1 （WFS1）中发现了一个与WS相关的基因。它编码一个被认为在广泛的组织中表达的890个氨基酸的跨膜蛋白。最近，一个新的WS位点被定位在4q22-24上，为该综合征的遗传异质性提供了额外的证据。我们研究了三组个体中WFS1变异的存在：糖尿病患者、耳聋患者和两者兼有的患者。第四组健康受试者作为对照。我们在WFS1基因中发现了18个核苷酸变化：3个突变和15个多态性。这些变化中有六个以前没有描述过。在患者组中研究的15个多态性中，有4个与对照组相比在等位基因和基因型分布上存在统计学差异。
Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterised by early onset diabetes mellitus and progressive optic atrophy, as well as other clinical features such as deafness, diabetes insipida, renal tract abnormalities and diverse psychiatric illnesses. A gene responsible for WS was identified in 4p16.1 (WFS1). It encodes a putative 890 amino acid transmembrane protein expressed in a wide spectrum of tissues. Recently, a new locus for WS has been located on 4q22-24, providing additional evidence for the genetic heterogeneity of this syndrome. We have studied the presence of WFS1 variants in three groups of individuals: patients with diabetes mellitus, patients with deafness and patients with both conditions. A fourth group of healthy subjects was used as control. We have identified a total of 18 nucleotide changes in the WFS1 gene: three mutations and 15 polymorphisms. Six of these changes were previously undescribed. Four of the 15 polymorphisms studied among the patients group present statistical differences in the allelic and genotypic distribution when comparing affected vs control groups.