Analysis of MYOC gene variants among sporadic patients with primary open-angle glaucoma.
10.3760/cma.j.issn.1003-9406.2019.07.002
- Author:
Xiaohuan ZHANG
1
;
Dingding ZHANG
;
Lulin HUANG
;
Fang HAO
;
Ying LIN
;
Bo GONG
;
Zhenglin YANG
Author Information
1. School of Clinical Medicine, Southwest Medical University, Luzhou, Sichuan 646000, China. zliny@yahoo.com.
- Publication Type:Journal Article
- MeSH:
Cytoskeletal Proteins;
genetics;
Eye Proteins;
genetics;
Glaucoma, Open-Angle;
genetics;
Glycoproteins;
genetics;
Humans;
Mutation
- From:
Chinese Journal of Medical Genetics
2019;36(7):662-665
- CountryChina
- Language:Chinese
-
Abstract:
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.
