Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2019
[Analysis of MYOC gene variants among sporadic patients with primary open-angle glaucoma].
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Zhang Xiaohuan, Zhang Dingding, Huang Lulin, Hao Fang, Lin Ying, Gong Bo, Yang Zhenglin
Аннотация
OBJECTIVE: To screen for MYOC gene variants among sporadic patients with primary open angle glaucoma (POAG).
METHODS: For 398 patients with POAG, Sanger sequencing was applied to detect potential variants of the MYOC gene.
RESULTS: Eight patients (2.0%) were found to harbor variations of the MYOC gene. These included five types of variants, among which c.667C>T (p.Pro223Ser) and c.1138G>T (p.Asp380Tyr) were novel. c.382C>T (p.Arg128Trp), c.1109C>T(p.Pro370Leu) and c.1130C>A (p.Thr377Lys) were previously associated with POAG. Alignment of amino acid sequences of MYOC proteins of various species revealed that the two novel variants have occurred at highly conserved positions. c.1138G>T was predicted to be possible pathogenic by Bioinformatic analysis.
CONCLUSION: Two novel variants of the MYOC gene were detected among sporadic POAG patients, which enriched its variant spectrum.
METHODS: For 398 patients with POAG, Sanger sequencing was applied to detect potential variants of the MYOC gene.
RESULTS: Eight patients (2.0%) were found to harbor variations of the MYOC gene. These included five types of variants, among which c.667C>T (p.Pro223Ser) and c.1138G>T (p.Asp380Tyr) were novel. c.382C>T (p.Arg128Trp), c.1109C>T(p.Pro370Leu) and c.1130C>A (p.Thr377Lys) were previously associated with POAG. Alignment of amino acid sequences of MYOC proteins of various species revealed that the two novel variants have occurred at highly conserved positions. c.1138G>T was predicted to be possible pathogenic by Bioinformatic analysis.
CONCLUSION: Two novel variants of the MYOC gene were detected among sporadic POAG patients, which enriched its variant spectrum.