Marzieh Mohseni, Farzane Zare Ashrafi, Ehsan Abbaspour Rodbaneh, Haleh Mokabber, Maryam Vafaei, Ramiz Nobakht, Fatemeh Keshavarzi, Sanaz Arzhangi, Sara Arish, Zahra Nematollahi Azar, Kimia Kahrizi, Hossein Najmabadi, Behzad Davarnia
{"title":"揭示听力损失的遗传景观：在伊朗阿达比尔的阿塞拜疆家庭的综合研究。","authors":"Marzieh Mohseni, Farzane Zare Ashrafi, Ehsan Abbaspour Rodbaneh, Haleh Mokabber, Maryam Vafaei, Ramiz Nobakht, Fatemeh Keshavarzi, Sanaz Arzhangi, Sara Arish, Zahra Nematollahi Azar, Kimia Kahrizi, Hossein Najmabadi, Behzad Davarnia","doi":"10.1002/mgg3.70080","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Hereditary hearing loss (HHL) is a clinically and genetically heterogeneous sensorineural disorder that presents challenges for diagnosis. Next-generation sequencing (NGS) approaches have facilitated a more cost-effective, streamlined diagnostic process. This study aimed to identify HHL variants using NGS in Iranian Azeri families in Ardabil Province, establishing a suitable framework for screening programs tailored to the local population.</p><p><strong>Methods: </strong>Seventy-four GJB2-negative Azeri families with HHL from Ardabil Province of Iran were studied using the OtoSCOPE panel and/or exome sequencing over 15-years from 2008 to 2023.</p><p><strong>Results: </strong>Data analysis revealed 53 HHL variants in 52 of the 74 most consanguineous families (70%), including 34 pathogenic/likely pathogenic variants and 19 variants of uncertain significance. Seventeen of the detected variants were novel. SLC26A4, MYO7A, USH2A, and TMPRSS3 were the most prevalent mutated genes for non-syndromic hearing loss (NSHL) and syndromic hearing loss (SHL) in this study.</p><p><strong>Conclusion: </strong>Our results are comparable to those of previous studies, indicating that SLC26A4 is the second most common cause of HHL, after GJB2. Moreover, our study emphasizes the significance of understanding the genetic basis of HL for early diagnosis and the implementation of suitable screening programs for various ethnicities in Iran.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 2","pages":"e70080"},"PeriodicalIF":1.5000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11836346/pdf/","citationCount":"0","resultStr":"{\"title\":\"Unraveling the Genetic Landscape of Hearing Loss: A Comprehensive Study of Azeri Families in Ardabil, Iran.\",\"authors\":\"Marzieh Mohseni, Farzane Zare Ashrafi, Ehsan Abbaspour Rodbaneh, Haleh Mokabber, Maryam Vafaei, Ramiz Nobakht, Fatemeh Keshavarzi, Sanaz Arzhangi, Sara Arish, Zahra Nematollahi Azar, Kimia Kahrizi, Hossein Najmabadi, Behzad Davarnia\",\"doi\":\"10.1002/mgg3.70080\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Hereditary hearing loss (HHL) is a clinically and genetically heterogeneous sensorineural disorder that presents challenges for diagnosis. Next-generation sequencing (NGS) approaches have facilitated a more cost-effective, streamlined diagnostic process. This study aimed to identify HHL variants using NGS in Iranian Azeri families in Ardabil Province, establishing a suitable framework for screening programs tailored to the local population.</p><p><strong>Methods: </strong>Seventy-four GJB2-negative Azeri families with HHL from Ardabil Province of Iran were studied using the OtoSCOPE panel and/or exome sequencing over 15-years from 2008 to 2023.</p><p><strong>Results: </strong>Data analysis revealed 53 HHL variants in 52 of the 74 most consanguineous families (70%), including 34 pathogenic/likely pathogenic variants and 19 variants of uncertain significance. Seventeen of the detected variants were novel. SLC26A4, MYO7A, USH2A, and TMPRSS3 were the most prevalent mutated genes for non-syndromic hearing loss (NSHL) and syndromic hearing loss (SHL) in this study.</p><p><strong>Conclusion: </strong>Our results are comparable to those of previous studies, indicating that SLC26A4 is the second most common cause of HHL, after GJB2. Moreover, our study emphasizes the significance of understanding the genetic basis of HL for early diagnosis and the implementation of suitable screening programs for various ethnicities in Iran.</p>\",\"PeriodicalId\":18852,\"journal\":{\"name\":\"Molecular Genetics & Genomic Medicine\",\"volume\":\"13 2\",\"pages\":\"e70080\"},\"PeriodicalIF\":1.5000,\"publicationDate\":\"2025-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11836346/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular Genetics & Genomic Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/mgg3.70080\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Genetics & Genomic Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/mgg3.70080","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Unraveling the Genetic Landscape of Hearing Loss: A Comprehensive Study of Azeri Families in Ardabil, Iran.
Background: Hereditary hearing loss (HHL) is a clinically and genetically heterogeneous sensorineural disorder that presents challenges for diagnosis. Next-generation sequencing (NGS) approaches have facilitated a more cost-effective, streamlined diagnostic process. This study aimed to identify HHL variants using NGS in Iranian Azeri families in Ardabil Province, establishing a suitable framework for screening programs tailored to the local population.
Methods: Seventy-four GJB2-negative Azeri families with HHL from Ardabil Province of Iran were studied using the OtoSCOPE panel and/or exome sequencing over 15-years from 2008 to 2023.
Results: Data analysis revealed 53 HHL variants in 52 of the 74 most consanguineous families (70%), including 34 pathogenic/likely pathogenic variants and 19 variants of uncertain significance. Seventeen of the detected variants were novel. SLC26A4, MYO7A, USH2A, and TMPRSS3 were the most prevalent mutated genes for non-syndromic hearing loss (NSHL) and syndromic hearing loss (SHL) in this study.
Conclusion: Our results are comparable to those of previous studies, indicating that SLC26A4 is the second most common cause of HHL, after GJB2. Moreover, our study emphasizes the significance of understanding the genetic basis of HL for early diagnosis and the implementation of suitable screening programs for various ethnicities in Iran.
期刊介绍：
Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care.
Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
