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Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations

Mahbobeh Koohiyan|Fatemeh Azadegan-Dehkordi|Farideh Koohian|Morteza Hashemzadeh-Chaleshtori
대한청각학회 (Korean Audiological Society)|2019.10|Journal of Audiology & Otology|제23권 제4호|pp. 175-180|DOI 10.7874/jao.2019.00059

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초록

Diagnosis of pre-lingual hearing loss (HL) is difficult owing to the high number of genes responsible. The most frequent cause of HL is DFNB1 due to mutations in the GJB2 gene. It represents up to 40% of HL cases in some populations. In Iran, it has previously been shown that DFNB1 accounts for 16-18% of cases but varies among different ethnic groups. Here, we reviewed results from our three previous publications and data from other published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in northern Iran. In total, 903 unrelated families from six different provinces, viz., Gilan, Mazandaran, Golestan, Ghazvin, Semnan, and Tehran, were included and analyzed for the type and prevalence of GJB2 mutations. A total of 23 different genetic variants were detected from which 18 GJB2 mutations were identified. GJB2 mutations were 20.7% in the studied northern provinces, which was significantly higher than that reported in southern populations of Iran. Moreover, a gradient in the frequency of GJB2 mutations from north to south Iran was observed. c.35delG was the most common mutation, accounting for 58.4% of the cases studied. This study suggests that c.35delG mutation in GJB2 is the most important cause of HL in northern Iran.

Abstract

Diagnosis of pre-lingual hearing loss (HL) is difficult owing to the high number of genes responsible. The most frequent cause of HL is DFNB1 due to mutations in the GJB2 gene. It represents up to 40% of HL cases in some populations. In Iran, it has previously been shown that DFNB1 accounts for 16-18% of cases but varies among different ethnic groups. Here, we reviewed results from our three previous publications and data from other published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in northern Iran. In total, 903 unrelated families from six different provinces, viz., Gilan, Mazandaran, Golestan, Ghazvin, Semnan, and Tehran, were included and analyzed for the type and prevalence of GJB2 mutations. A total of 23 different genetic variants were detected from which 18 GJB2 mutations were identified. GJB2 mutations were 20.7% in the studied northern provinces, which was significantly higher than that reported in southern populations of Iran. Moreover, a gradient in the frequency of GJB2 mutations from north to south Iran was observed. c.35delG was the most common mutation, accounting for 58.4% of the cases studied. This study suggests that c.35delG mutation in GJB2 is the most important cause of HL in northern Iran.

참고문헌 (44)

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관련 논문AI추천

Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of IranEffat Farrokhi, Fatemeh Azadegan-Dehkordi, Gelareh Karbasi, Mahbobeh Koohiyan, Maryam Shirzad, Mohammad Amin Tabatabaiefar, Morteza Hashemzadeh-Chaleshtori, Nasrin Yazdanpanahi, Tayyebe Bahrami대한청각학회 · Journal of Audiology & Otology2019 · 제23권 제1호Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea고문희, 김종원, 김희정, 김희진, 박창훈, 원홍희, 이기오, 정원호, 조양선, 추호석, 홍성화대한이비인후과학회 · Clinical and Experimental Otorhinolaryngology2010 · 제3권 제2호Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred SyndromeEffat Farrokhi, Mohammad Amin Tabatabaiefar, Morteza Hashemzadeh Chaleshtori, Nader Bagheri, Narges Abdian, Nasrin Yazdanpanahi, Shirin Shahbazi, Zahra Noormohammadi대한이비인후과학회 · Clinical and Experimental Otorhinolaryngology2013 · 제6권 제4호Genetic and nongenetic etiologies of congenital hearing loss이지영한국융합학회 · 미래기술융합논문지2025 · 제4권 제3호Cordblood-Based High-Throughput Screening for Deafness Gene of 646 Newborns in Jinan Area of ChinaCai-Xia Sun, Ding-Li Chen, Gen-Dong Yao, Hai-Qin Feng, Li-Li Guo, Li-Li Ping, Shou-Xia Li, Su-Bin Zhao, Xiao-Fang Zhang, Zhi-Ming Yang대한이비인후과학회 · Clinical and Experimental Otorhinolaryngology2015 · 제8권 제3호Deficient Gap Junction Coupling in Two Common Hearing Loss-Related Variants of GJB2Hongyan Jiang, Kaitian Chen대한이비인후과학회 · Clinical and Experimental Otorhinolaryngology2024 · 제17권 제3호

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