Department of ENT - HN Surgery,Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, Haikou, China.
J Int Adv Otol. 2023 Jul;19(4):283-287. doi: 10.5152/iao.2023.21582.
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.
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.
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%.
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.
海南省是中国最南端的岛屿，远离大陆，常住人口变化不大。为了了解海南的突变谱，并为聋人提供有效的遗传咨询，我们对该人群中的非综合性听力障碍进行了基因分析。因此，在这项研究中，对海南东北部 183 名中度感音神经性耳聋儿童进行了易感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。
对来自海南省的 183 例非综合征型听力障碍的无关患者进行了完整的临床评估。采用基质辅助激光解吸电离飞行时间质谱法对每位受试者进行常见突变筛查，包括 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；和 mtRNA 1494 C>T、1555 A>G。
遗传分析显示，GJB2、SLC26A4 和线粒体 M.1555A > G 突变分别占非综合征型听力障碍病因的 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 和线粒体 M.1555A > G。海南的总突变率为 16.39%。
本研究是首次对海南地区非综合征型听力障碍进行遗传分析。结果表明，在这些地区的非综合征型听力障碍病例中，有明确遗传原因的占 16.39%，突变热点主要为 GJB2 和 SLC26A4，其中 SLC26A4 是最常见的突变部位。本研究为海南地区非综合征型听力障碍人群的耳聋遗传咨询提供了有针对性的有用信息。
