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

European Journal of Medical Genetics
Behnam Safarpour LimaBabak Emamalizadeh

Abstract

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.

References

Feb 13, 2001·Molecular Genetics and Metabolism·M Gómez-ZaeraV Nunes
Apr 24, 2001·Human Mutation·F KhanimT G Barrett
Jun 26, 2003·Nucleic Acids Research·Pauline C Ng, Steven Henikoff
Oct 27, 2004·Prenatal Diagnosis·Enric DomènechVirginia Nunes
Jul 12, 2005·Diabetes Research and Clinical Practice·Kouichi InukaiShigehiro Katayama
Jan 31, 2006·Diabetes Research and Clinical Practice·Akinobu NakamuraTakao Koike
Jun 15, 2007·American Journal of Medical Genetics. Part a·A CanoB Vialettes
Feb 18, 2010·The Journal of Clinical Investigation·Sonya G FonsecaFumihiko Urano
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Mar 30, 2011·Annals of Neurology·Annabelle ChaussenotVéronique Paquis-Flucklinger
Feb 23, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Miguel López de HerediaVirginia Nunes

❮ Previous
Next ❯

Citations

Apr 2, 2019·Frontiers in Physiology·Michal CagalinecIvan Zahradník

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.

Related Papers

Acta Medica (Hradec Králové)
A KadayifciY Huang
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
M BessahraouiM Touhami
© 2022 Meta ULC. All rights reserved