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1 General aspects (1)   1.1 Epidemiology (14)   1.2 Population genetics (2)   1.3 Pathogenesis (1)   1.4 Quality of life (20)   1.5 Glaucomas as cause of blindness (8)   1.6 Prevention and screening (13) 2 Anatomical structures in glaucoma (0)   2.1 Conjunctiva (10)   2.2 Cornea (23)   2.3 Sclera (16)   2.4 Anterior chamber angle (7)   2.5 Meshwork (0)     2.5.1 Trabecular meshwork (15)     2.5.2 Schlemms canal (1)     2.5.3 Scleral outlet channels (1)   2.6 Aqueous humor dynamics (0)     2.6.1 Production (0)     2.6.2 Outflow (1)       2.6.2.1 Trabecular meshwork (4)       2.6.2.2 Uveoscleral (1)     2.6.3 Compostion (6)   2.7 Episcleral veins and venous pressure (2)   2.8 Iris (6)   2.9 Ciliary body (0)   2.10 Lens (0)   2.11 Vitreous body (0)   2.12 Choroid, peripapillary choroid, peripapillary atrophy (18)   2.13 Retina and retinal nerve fibre layer (37)   2.14 Optic disc (42)   2.15 Optic nerve (2)   2.16 Chiasma and retrochiasmal central nervous system (13)   2.17 Stem cells (5)   2.20 Other (0) 3 Laboratory methods (0)   3.1 Microscopy (0)   3.2 Electron microscopy (2)   3.3 Immunohistochemistry (2)   3.4 Molecular genetics (0)     3.4.1 Linkage studies (0)     3.4.2 Gene studies (30)   3.5 Molecular biology incl. 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Abstract #82003 Published in IGR 20-4

Analysis of MYOC gene variants among sporadic patients with primary open-angle glaucoma

Zhang X; Zhang D; Huang L; Hao F; Lin Y; Gong B; Yang Z
Chinese Journal of Medical Genetics 2019; 36: 662-665

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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.

School of Clinical Medicine, Southwest Medical University, Luzhou, Sichuan 646000, China. zliny@yahoo.com.

Full article

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Classification:

3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)

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