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Identification of Mutations in Myocilin and beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma

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Chinese Medical Journal 2016年第23期129卷 2810-2815页

作者： Rong-Feng Liao Zi-Lin Zhong Min-Jie Ye Li-Yun Han Dong-Qing Ye Jian-Jun Chen Department of Epidemiology and Biostatistics School of Public Health Anhui Medical University Hefei Anhui 230032 China Department of Ophthalmology The First Affiliated Hospital of Anhui Medical University Hefei Anhui 230032 China Department of Ophthalmology of Shanghai Tenth People's Hospital and Tongji Eye Institute Tongji University School of Medicine Shanghai 200092 China

Background： Glaucoma is a major cause of irreversible blindness worldwide. There is evidence showing that a subset of the disease is genetically determined. In this study, we screened for mutations in chromosome lq-linked open-angle glaucoma （GLC1A） in a Chinese family with primary open-angle glaucoma （POAG）. Methods： A total of 23 members from five generations of a family were enrolled and underwent thorough ophthalmologic examinations. In addition, 200 unrelated healthy Chinese controls were also recruited as normal control. GLC1A gene was amplified by polymerase chain reaction, and DNA sequencing was performed to screen for mutations. Results： Six members were diagnosed as POAG, with severe clinical manifestations, and history of high intraocular pressures. The mean age of disease onset was 26.3 years. However, the others were asymptomatic. In six affected and three asymptomatic members, gene sequencing revealed a mutation c.C1456T in exon 3 of myocilin gene （MYOC）. Furthermore, we also identified a novel mutation c.G322A in beta- 1,4-galactosyltransferase 3 （B4GALT3） gene in all six affected and three asymptomatic members, which was not reported previously in POAG patients. The two newly identified variants were absent in other family members as well as controls. Conclusion： The mutations c.1456C〈T （p.L486F） in MYOC and c.322G〈A （p.V1081） in B4GALT3 are likely responsible for the pathogenesis of POAG in this family.

关键词： beta-1,4-galactosyltransferase 3 Genetic Testing Glaucoma Myocilin Primary Open-angle Glaucoma

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