A Village in the Southeastern Region of Iran Harboring the c.716T>A (p.Val239Asp) Mutation in SLC26A4 .

Autor: Zare Ashrafi F; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Dorgaleleh S; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Rezvani Rezvandeh R; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Kazemi N; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Azizi N; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Edizadeh M; Department of Bioinformatics, Genoks Genetic Diagnosis Center, Ankara, Turkey.; Ilyome Bioinformatics, Ankara, Turkey., Azizi MH; Academy of Medical Sciences of IR Iran, Tehran, Iran., Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Najafipour R; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Mohseni M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Jazyk: angličtina
Zdroj: Archives of Iranian medicine [Arch Iran Med] 2024 Sep 01; Vol. 27 (9), pp. 522-526. Date of Electronic Publication: 2024 Sep 01.
DOI: 10.34172/aim.28745
Abstrakt: 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.
(© 2024 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.)
Databáze: MEDLINE
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