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A Village in the Southeastern Region of Iran Harboring the c.716T>A (p.Val239Asp) Mutation in SLC26A4 .
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- Additional Information
- Source:
Publisher: Academy of Medical Sciences of I.R. Iran Country of Publication: Iran NLM ID: 100889644 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1735-3947 (Electronic) Linking ISSN: 10292977 NLM ISO Abbreviation: Arch Iran Med Subsets: MEDLINE
- Publication Information:
Original Publication: Tehran : Academy of Medical Sciences of I.R. Iran, [1998-
- Subject Terms:
- 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.
(© 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.)
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- Contributed Indexing:
Keywords: Exome sequencing; Founder mutation; Iran; Non-syndromic hearing loss; SLC26A4
- Accession Number:
0 (SLC26A4 protein, human)
0 (Sulfate Transporters)
127120-53-0 (Connexin 26)
0 (GJB2 protein, human)
0 (Membrane Transport Proteins)
- Publication Date:
Date Created: 20241028 Date Completed: 20241028 Latest Revision: 20241029
- Publication Date:
20250114
- Accession Number:
PMC11496598
- Accession Number:
10.34172/aim.28745
- Accession Number:
39465527
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