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Abstract #22048 Published in IGR 10-4
Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma
Dai X-A-H; Nie S-W; Ke T; Liu J-P; Wang Q; Liu M-GChinese Journal of Medical Genetics 2008; 25: 493-496
OBJECTIVE: To describe the clinical and genetic characteristics of a Chinese family with primary angle-closure glaucoma (PACG). METHODS: Linkage analysis and DNA sequencing as well as single strand conformation polymorphism (SSCP) analysis were performed to identify the disease-causing mutations. RESULTS: The Arg46Stop mutation in MYOC gene and Leu432Val in CYP1B1 gene were identified in all patients. The digenic alterations have not been identified in any same Chinese control individuals. CONCLUSION: The authors identified digenic mutations, Arg46Stop in MYOC gene and Leu432Val in CYP1B1 gene, in a Chinese PACG family. The study suggests a possible role of MYOC and CYP1B1 in the development of PACG and support the hypothesis that PAOG and PACG may have common origin across multiple glaucoma phenotypes. LA: Chinese
Dr. M.-G. Liu, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China. lium@mail.hust.edu.cn
