Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay
نویسندگان
چکیده
منابع مشابه
Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations
PURPOSE To describe the first instance of genotyping in a Latin American family with Wolfram syndrome (WS). METHODS Four affected siblings and their healthy parents were studied. Ophthalmologic examination included best corrected visual acuity determination, funduscopy, fluorescein retinal angiography, and Goldmann kinetic perimetry. Molecular methods included linkage analysis using microsate...
متن کاملA novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report
BACKGROUND Wolfram syndrome (WS), caused by mutations of the Wolfram syndrome 1 (WFS1) gene on chromosome 4p16.1, is an autosomal recessive disorder characterized by diabetes insipidus (DI), neuro-psychiatric disorders, hearing deficit, and urinary tract anomalies. CASE PRESENTATION Here we report a 11-year-old Chinese boy who presented with visual loss, was suspected with optic neuritis (ON)...
متن کاملIdentification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome
Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder characterized by the presentation of early onset type I diabetes mellitus and optic atrophy with later onset diabetes insipidus and deafness. WFS1 gene was identified on chromosome 4p16.1 as the gene responsible for WS disease given that most of the WS patients were found to carry mutations in this gene. This study w...
متن کاملClinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)
Wolfram syndrome (WS) is an autosomal recessive disorder caused by mutations in WFS1 gene. The clinical features include diabetes insipidus, diabetes mellitus (DM), optic atrophy, deafness, and other variable clinical manifestations. In this paper, we present the clinical and genetic characteristics of 3 WS patients from 3 unrelated Turkish families. Clinical characteristics of the patients and...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2003
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.10215