Academy of Medical Sciences of I.R. Iran Archives of Iranian Medicine 1029-2977 27 9 2024 09 01 A Village in the Southeastern Region of Iran Harboring the c.716T>A (p.Val239Asp) Mutation in SLC26A4 522 526 10.34172/aim.28745 EN Farzane Zare Ashrafi https://orcid.org/0000-0002-8163-5221 Saeed Dorgaleleh Raziye Rezvani Rezvandeh Negar Kazemi Nasrin Azizi Masoud Edizadeh Mohammad Hossein Azizi Kimia Kahrizi Hossein Najmabadi Reza Najafipour Marzieh Mohseni https://orcid.org/0000-0003-1200-4044 Journal Article 10.34172/aim.28745 2023 12 30 2024 07 01 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.