Gene Screening for Non-Syndromic Deafness in Hainanese Patients.

IF 1 4区医学 Q3 OTORHINOLARYNGOLOGY

Journal of International Advanced Otology Pub Date : 2023-07-01 DOI:10.5152/iao.2023.21582

Yifei Fu, Zhibin Zhao, Jing Zheng, Yuanping Zhu, Liang Sun

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Abstract

Background: Hainan Province is the southernmost island in China, far from the mainland, and the resident population changes little. In order to understand the mutation spectrum in Hainan and provide effective genetic counseling for deaf people, we carried out genetic analysis on the non-comprehensive hearing impairment in this population. Therefore, in this study, 183 children with moderate sensorineural deafness in the northeast of Hainan were analyzed with susceptibility gene carrying and gene mutation, providing some reference for hainan to guide the prevention and treatment of deafness.

Methods: Complete clinical evaluations were performed on 183 unrelated patients with a non-syndromic hearing impairment from Hainan Province. Each subject was screened for common mutations using the matrix-assisted laser desorption ionization-time of flight mass spectrometry, including GJB2 c.35delG,c.235delC,c.299_300del AT,c.176_191del16,c.167delT; GJB3 c.538 C>T,c.547G >A;SLC26A4 IVS7-2 A>G,c.2168 A>G,c.1174A>T,c.1229 C>T,c.1226G>A,c.1975G>C,c.2027T>A,c.2162C>T,c.281C>T,c.589G>A,IVS15+5G>A; and mtRNA 1494 C>T,1555 A>G.

Results: Genetic analysis showed that GJB2, SLC26A4, and mitochondrial M. 1555A > G mutations accounted for 7.10%, 8.74%, and 0.55% of the etiology of non-syndromic hearing impairment, respectively. Common mutations include GJB2 C. 235delC, SLC26A4 c.I vs7-2a →G, C. 2168A→G, and mitochondrial M. 1555A > G. The total mutation rate in Hainan was 16.39%.

Conclusion: Our study is the first one to carry out genetic analysis on non-syndromic hearing impairment in Hainan. The results show that in the cases of non-syndromic hearing impairment in these areas, there is a clear genetic cause accounted for 16.39%, and the mutation hot spots are mainly GJB2 and SLC26A4, and SLC26A4 is the most common mutation site. This study provides useful and targeted information for genetic counseling of deafness in people with non-syndromic hearing impairment in Hainan.

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海南省非综合征性耳聋患者的基因筛查。

背景：海南省是中国最南端的岛屿，远离大陆，常住人口变化不大。为了了解海南地区的突变谱，为聋人提供有效的遗传咨询，我们对该人群的非综合性听力障碍进行了遗传分析。因此，本研究对海南东北地区183例中度感音神经性耳聋患儿进行了易感性基因携带和基因突变分析，为海南指导耳聋的防治提供了一定的参考。方法：对来自海南省的183例非综合征性听力障碍患者进行完整的临床评价。使用基质辅助激光解吸电离飞行时间质谱法筛选每个受试者的常见突变，包括GJB2 c.35delG、c.235delC、c.299_300delAT、c.176_191del16、c.167delT；GJB3 c.538 c>T，c.547G>A；SLC26A4 IVS7-2 A>G，c.2168 A>G、c.1174A>T，c.1229 c>T、c.1226G>A、c.1975G>c、c.2027T>A，c.2162C>T、c.281C>T，c.589G>A，IVS15+5G>A；结果：遗传分析显示GJB2、SLC26A4和线粒体M.1555A>G突变分别占非综合征性听力障碍病因的7.10%、8.74%和0.55%。常见的突变包括GJB2 C.235delC、SLC26A4 C.I vs7-2a→G、 C.2168A→G、海南省总突变率为16.39%。结果表明，在这些地区的非综合征性听力障碍病例中，有明确遗传原因的占16.39%，突变热点主要是GJB2和SLC26A4，其中SLC26A 4是最常见的突变位点。本研究为海南非综合征性听力障碍患者耳聋的遗传咨询提供了有用和有针对性的信息。

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来源期刊

Journal of International Advanced Otology OTORHINOLARYNGOLOGY-

CiteScore

1.80

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： The Journal of International Advanced Otology (IAO – Citation Abbreviation: J Int Adv Otol) is an open access double-blind peer-reviewed, international publication. The Journal of International Advanced Otology is fully sponsored and owned by the European Academy of Otology and Neurotology and the Politzer Society. The Journal of International Advanced Otology is published 3 times per year on April, August, December and its publication language is English. The scope of the Journal is limited with otology, neurotology, audiology (excluding linguistics) and skull base medicine. The Journal of International Advanced Otology aims to publish manuscripts at the highest clinical and scientific level. IAO publishes original articles in the form of clinical and basic research, review articles, short reports and a limited number of case reports. Controversial patient discussions, communications on emerging technology, and historical issues will also be considered for publication.