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

Safarpour Lima, B. and Ghaedi, H. and Daftarian, N. and Ahmadieh, H. and Jamshidi, J. and Khorrami, M. and Noroozi, R. and Sohrabifar, N. and Assarzadegan, F. and Hesami, O. and Taghavi, S. and Ahmadifard, A. and Atakhorrami, M. and Rahimi-Aliabadi, S. and Shahmohammadibeni, N. and Alehabib, E. and Andarva, M. and Darvish, H. and Emamalizadeh, B. (2016) C.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness. European Journal of Medical Genetics, 59 (2). pp. 65-69.

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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. © 2016 Elsevier Masson SAS.

Item Type: Article
Additional Information: cited By 0
Divisions: School of Medicine
Depositing User: Unnamed user with email eprints@fums.ac.ir
Date Deposited: 10 Mar 2017 18:00
Last Modified: 10 Mar 2017 18:00
URI: http://eprints.fums.ac.ir/id/eprint/88

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