title: Wolfram syndrome: phenotype and novel mutation in two Taiwanese siblings.
abstract: 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.
authors.affiliation: Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan.
authors.forename: San-Ging
authors.initials: SG
authors.lastname: Shu
authors.forename: Chi-Ren
authors.initials: CR
authors.lastname: Tsai
authors.forename: Ching-Shiang
authors.initials: CS
authors.lastname: Chi
mesh_terms: D001791:Blood Platelet Disorders / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4; D018389:Codon, Nonsense; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010437:Peptic Ulcer / Q000235:genetics*; D010641:Phenotype; D035781:Siblings; D014929:Wolfram Syndrome / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense