Farzane Zare Ashrafi
1 
, Saeed Dorgaleleh
1, Raziye Rezvani Rezvandeh
1, Negar Kazemi
1, Nasrin Azizi
1, Masoud Edizadeh
2,3, Mohammad Hossein Azizi
4, Kimia Kahrizi
1, Hossein Najmabadi
1, Reza Najafipour
1, Marzieh Mohseni
1* 1 Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
2 Department of Bioinformatics, Genoks Genetic Diagnosis Center, Ankara, Turkey
3 Ilyome Bioinformatics, Ankara, Turkey
4 Academy of Medical Sciences of IR Iran, Tehran, Iran
Abstract
After GJB2, SLC26A4 is the second most common contributor to autosomal recessive nonsyndromic hearing loss (ARNSHL) worldwide. In this study, we used Exome Sequencing (ES) to present a village with 31 individuals affected by hereditary hearing loss (HHL) in southeastern Iran near the border of Pakistan. The village harbored the known pathogenic missense SLC26A4 (NM_000441.2):c.716T>A (p.Val239Asp) mutation, which has a founder effect attributed to Pakistan, Iran’s southeastern neighbor. Our findings, in addition to unraveling the molecular cause of non-syndromic hearing loss in these patients and further confirming the common ancestry and migration story between the people of this region and Pakistan, provide further insight into the genetic background of this region and highlight the importance of understanding the mutation spectrum of GJB2 and SLC26A4 in different regions to choose cost-effective strategies for molecular genetic testing.