ArticleThe journal of international advanced otology2023
Gene Screening for Non-Syndromic Deafness in Hainanese Patients.
Article in The journal of international advanced otology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundHainan 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.
methodsComplete 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.
resultsGenetic 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%.
conclusionOur 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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