Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified
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منابع مشابه
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report
Wolfram-like syndrome (WFSL) is a rare autosomal dominant disease characterised by congenital progressive hearing loss, diabetes mellitus, and optic atrophy. The patient was a boy with the juvenile form of diabetes mellitus and findings which clinically matched the symptoms of Wolfram syndrome. At the age of 3 1/4 years, diabetes mellitus was diagnosed in this boy who also had severe psychomoto...
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 کاملWolfram Syndrome in the Japanese Population; Molecular Analysis of WFS1 Gene and Characterization of Clinical Features
BACKGROUND Wolfram syndrome (WFS) is a recessive neurologic and endocrinologic degenerative disorder, and is also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy and Deafness) syndrome. Most affected individuals carry recessive mutations in the Wolfram syndrome 1 gene (WFS1). However, the phenotypic pleiomorphism, rarity and molecular complexity of...
متن کاملClinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1
Objective Wolfram syndrome (WS) is a rare, degenerative, and hereditary disorder characterized by ear diabetes mellitus (DM) and optic atrophy (OA). We aim to characterize clinical features in Chinese patients who had been poorly studied until now. Methods We performed a retrospective review of patients with WS seen in the Peking Union Medical College Hospital from 2002 to 2017. Data includin...
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...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2005
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201491