c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness.

Safarpour Lima, Behnam and Ghaedi, Hamid and Daftarian, Narsis and Ahmadieh, Hamid and Jamshidi, Javad and Khorrami, Mehdi and Noroozi, Rezvan and Sohrabifar, Nasim and Assarzadegan, Farhad and Hesami, Omid and Taghavi, Shaghayegh and Ahmadifard, Azadeh and Atakhorrami, Minoo and Rahimi-Aliabadi, Simin and Shahmohammadibeni, Neda and Alehabib, Elham and Andarva, Monavvar and Darvish, Hossein and Emamalizadeh, Babak (2016) c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness. European journal of medical genetics, 59 (2). pp. 65-9. ISSN 1878-0849

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Wolfram syndrome is one of the rare autosomal recessive, progressive, neurodegenerative disorders, characterized by diabetes mellitus and optic atrophy. Several other features are observed in patients including deafness, ataxia, and peripheral neuropathy. A gene called WFS1 is identified on chromosome 4p, responsible for Wolfram syndrome. We investigated a family consisted of parents and 8 children, which 5 of them have been diagnosed for Wolfram syndrome. WFS1 gene in all family members was sequenced for causative mutations. A mutation (c.376G>A, p.A126T) was found in all affected members in homozygous state and in both parents in heterozygous state. The bioinformatics analysis showed the deleterious effects of this nucleotide change on the structure and function of the protein product. As all of the patients in the family showed the homozygote mutation, and parents were both heterozygote, this mutation is probably the cause of the disease. We identified this mutation in homozygous state for the first time as Wolfram syndrome causation. We also showed that this mutation probably doesn't cause deafness in affected individuals.

Item Type: Article
Divisions: School of Medicine
Depositing User: Unnamed user with email eprints@fums.ac.ir
Date Deposited: 09 Mar 2017 19:27
Last Modified: 09 Mar 2017 19:27
URI: http://eprints.fums.ac.ir/id/eprint/406

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