Wolfram综合征
医学
先证者
兄弟姐妹
突变
无症状的
萎缩
复合杂合度
糖尿病
儿科
尿崩症
杂合子优势
表型
遗传学
内科学
基因
内分泌学
基因型
发展心理学
生物
心理学
作者
San-Ging Shu,Chi-Ren Tsai,Ching‐Shiang Chi
出处
期刊:PubMed
日期:2003-11-01
卷期号:102 (11): 808-11
摘要
Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder. The responsible gene, WFS1, was identified in 1998 and over 66 mutations have been reported since then. We report 2 siblings in a Taiwanese family with WS. They had similar clinical courses, including successive development of diabetes mellitus, optic atrophy, diabetes insipidus, hearing impairment, and urological complications from age 5 to 15 years. Rapid progression of systemic and neurological symptoms was noted in the elder brother. Mutation analysis of the 2 probands revealed compound heterozygotes of 1 novel and 1 previously reported mutation. Their parents and an asymptomatic sibling were carriers of 1 mutation.
科研通智能强力驱动
Strongly Powered by AbleSci AI