Author/Authors :
-، - نويسنده Department of Genetics, Faculty of Basic Sciences, University of Shahrekord, Shahrekord, Iran Reiisi, Somayeh , -، - نويسنده Medical Genetics Dept., Isfahan University of Medical Sciences, Medical Genetics Dept., National Institute of Genetic Engineering and Biotechnology (NIGEB), Isfahan, Iran Tabatabaiefar, Mohammad Amin , -، - نويسنده Medical Genetics Dept., National Institute of Genetic Engineering and Biotechnology (NIGEB) Sanati, Mohammad Hosein , -، - نويسنده Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran Hashemzadeh Chaleshtori, Morteza
Abstract :
Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive NSHL (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most frequent genes proposed include GJB2, SLC26A4, MYO15A, OTOF, and CDH23 worldwide. Materials and Methods: the aim of the present study was to determine the role of MYO15A gene mutations in Iranian families. Thirty Iranian families with over three deaf children and negative for GJB2 using genetic linkage analysis (GLA), followed by mutation screening by DNA sequencing were enrolled. Results: One family (3.33%) showed linkage to DFNB3 and a novel mutation was identified in the MYO15A gene (c.6442T>A) as the disease-causing mutation. Mutation co-segregated with hearing loss in the family but was not present in the 100 ethnicity-matched controls. Conclusion: Our results confirmed that the hearing loss of the linked Iranian family was caused by a novel missense mutation in the MYO15A gene. This mutation is the first to be reported in the world and affects the first MyTH4 domain of the protein.
