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

IF 1 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Archives of Iranian Medicine Pub Date : 2024-09-01 DOI:10.34172/aim.28745

Farzane Zare Ashrafi, Saeed Dorgaleleh, Raziye Rezvani Rezvandeh, Negar Kazemi, Nasrin Azizi, Masoud Edizadeh, Mohammad Hossein Azizi, Kimia Kahrizi, Hossein Najmabadi, Reza Najafipour, Marzieh Mohseni

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引用次数: 0

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.

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伊朗东南部地区的一个村庄携带 SLC26A4 基因 c.716T>A (p.Val239Asp) 突变。

继 GJB2 之后，SLC26A4 是全球常染色体隐性非综合征听力损失（ARNSHL）的第二大常见致病基因。在这项研究中，我们利用外显子组测序（ES）技术，在伊朗东南部靠近巴基斯坦边境的一个村庄发现了31名遗传性听力损失（HHL）患者。该村存在已知的致病性错义 SLC26A4 (NM_000441.2)：c.716T>A (p.Val239Asp) 突变，该突变的创始人效应来自伊朗的东南邻国巴基斯坦。我们的研究结果不仅揭示了这些患者非综合征性听力损失的分子原因，而且进一步证实了该地区居民与巴基斯坦居民之间的共同祖先和迁徙故事，还进一步揭示了该地区的遗传背景，并强调了了解不同地区 GJB2 和 SLC26A4 基因突变谱的重要性，从而为分子基因检测选择具有成本效益的策略。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Archives of Iranian Medicine 医学-医学：内科

CiteScore

4.20

自引率

0.00%

发文量

审稿时长

3-8 weeks

期刊介绍： Aim and Scope: The Archives of Iranian Medicine (AIM) is a monthly peer-reviewed multidisciplinary medical publication. The journal welcomes contributions particularly relevant to the Middle-East region and publishes biomedical experiences and clinical investigations on prevalent diseases in the region as well as analyses of factors that may modulate the incidence, course, and management of diseases and pertinent medical problems. Manuscripts with didactic orientation and subjects exclusively of local interest will not be considered for publication.The 2016 Impact Factor of "Archives of Iranian Medicine" is 1.20.