Home Ahead of print Instructions Contacts
About us Current issue Submit article Advertise  
Editorial board Archives Subscribe Login   
ORIGINAL ARTICLE
Year : 2019  |  Volume : 25  |  Issue : 3  |  Page : 146-150

SLC26A4 pathogenic variants as a third cause of hearing loss: Role of three exons in DFNB4 deafness in Iran


1 Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran
2 Rajaie Cardiovascular Medical and Research Center, Genetic Research Laboratory, Iran University of Medical Sciences, Tehran, Iran
3 Division of Medical Biotechnology, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran
4 Kawsar Human Genetics Research Center, Tehran, Iran
5 Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran; Kawsar Human Genetics Research Center, Tehran, Iran

Correspondence Address:
Prof. Sirous Zeinali
Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Pasteur St., Tehran; Kawsar Human Genetics Research Center, Medical Genetics Laboratory, No. 41, Majlesi St., ValiAsr St., Tehran
Iran
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/indianjotol.INDIANJOTOL_36_19

Rights and Permissions

Context: Pathogenic variants in SLC26A4 gene are the third-most frequent cause of autosomal recessive hearing loss in different populations. Aims: This article reports results of homozygosity mapping and SLC26A4 variant analysis in Iran. Settings and Design: A case series study was performed on forty GJB2-negative Iranian deaf families. Subjects and Methods: Homozygosity mapping, using microsatellite markers flanking the SLC26A4 gene, was performed on GJB2-negative Iranian deaf families. The SLC26A4 variant analysis was done by Sanger sequencing. A literature review was performed to identify all reported SLC26A4 pathogenic variants in Iran. Results: In one of the families, the hearing loss showed co-segregation with the DFNB4 STR markers. A previously reported SLC26A4 pathogenic variant was identified in homozygous state in all the affected members of this family. The literature review showed that variant screening of only three SLC26A4 exons and their boundary regions can detect variants responsible for deafness in about half of all DFNB4 Iranian deaf cases. Conclusions: The results of this study emphasize the important role of SLC26A4 pathogenic variants in the development of deafness in Iran. More information on the frequency of pathogenic variants can help in choosing faster and cost-effective methods for genetic testing.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed163    
    Printed0    
    Emailed0    
    PDF Downloaded10    
    Comments [Add]    

Recommend this journal