Abstract
To screen for MYOC gene variants among sporadic patients with primary open angle glaucoma (POAG). For 398 patients with POAG, Sanger sequencing was applied to detect potential variants of the MYOC gene. 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. Two novel variants of the MYOC gene were detected among sporadic POAG patients, which enriched its variant spectrum.
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