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The Role and Spectrum of Slc26a4 Mutations in Iranian Patients With Autosomal Recessive Hereditary Deafness Publisher Pubmed



Yazdanpanahi N1 ; Tabatabaiefar MA2 ; Bagheri N3 ; Dehkordi FA4 ; Farrokhi E4 ; Chaleshtori MH4
Authors
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Authors Affiliations
  1. 1. Department of Biochemistry, Falavarjan Branch, Islamic Azad University, Isfahan, Iran
  2. 2. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  3. 3. Department of Immunology, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Cellular and Molecular Research Center, School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran

Source: International Journal of Audiology Published:2015


Abstract

Objective: To determine the prevalence and types of SLC26A4 mutations and the relevant phenotypes in a series of Iranian deaf patients. Design: A descriptive laboratory study. Study sample: One hundred and twenty-one families including 60 unrelated patients and 61 unrelated multiplex families with autosomal recessive deafness were included. In the 61 multiplex families, linkage was conducted for short tandem repeats (STRs) of the DFNB4. Selected individuals from the linked families and all of the 60 deaf individuals were subjected to sequencing of SLC26A4. Results: Seven out of the 61 (11.5%) families were linked to the locus which upon further inquiry led to identifi cation of eight different mutations. Also, fi ve out of the 60 (8.3%) patients were positive for the mutations. The SLC26A4 mutations clarifi ed in 9.1% (12 families) of total investigated alleles included: c.2106delG, c.65-66insT, c.881-882delAC, c.863-864insT, c.1226G>A, c.1238A>G, c.1334T>G, c.1790T>C, c.1489G>, c.919-2A>G (IVS7-2A>G), c.1412delT, and c.1197delT. Six out of 12 (50%) families with mutations were confi rmed to be Pendred syndrome (PS). Conclusions: The results probably suggest a high prevalence and specifi city of SLC26A4 mutations among Iranian deaf patients. Molecular study of SLC26A4 may lead to elucidation of the population-specifi c mutation profi le which is of importance in diagnostics of deafness. © 2015 British Society of Audiology, International Society of Audiology, and Nordic Audiological Society.
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