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Single nucleotide polymorphism of MYOC affected the severity of primary open angle glaucoma

International Journal of Ophthalmology(English edition) 2013年第3期6卷 264-268页

作者： Xiao-Min Zhou Yan Yin ning Fan Hong-Bo Cheng Xiao-Hong Li Yun Wang Wen-Han Yu Su-Ping Cai Xu-Yang Liu Regenerative Medicine Research Center West China Hospital Sichuan University Ophthalmic Laboratories & department of Ophthalmology the State Key Laboratory of Biotherapy West China Hospital Sichuan University Shenzhen Eye Hospital Jinan University

AIM: To detect the mutations in two candidate genes, myocilin (MYOC ) and cytochrome P450 1B1 (CYP1B1 ), in a Chinese family with primary open angle glaucoma (POAG). ·METHOdS:Thefamilywascomposedofthreemembers, the parents and a daughter. All members of the family underwent complete ophthalmologic examinations. Exons of MYOC and CYP1B1 genes were screened for sequence alterations by polymerase chain reaction (PCR) and direct dnA sequencing. ·RESULTS: The mother was the proband, she was diagnosed as POAG in both eyes. Her daughter was diagnosed as juvenile -onset POAG. The father was asymptomatic. One MYOC heterozygous mutation c.1150 G >A (d384n) in exon 3 was identified in the mother, another MYOC heterozygous variation c.1058 C>T (T353I) in exon 3 was identified in the father, and the daughter inherited both of the variations. Meanwhile, three single nucleotide polymorphisms (SnPs) in CYP1B1 gene were found in the family. ·COnCLUSIOn: The d384n mutation of MYOC has been reported as one of disease-causing mutations in POAG, whereas T353I variation of MYOC was thought as a high risk factor for POAG. The two variations of MYOC were first reported in one juvenile -onset POAG patient whopresented with more severe clinical manifestations, suggesting that T353I polymorphism of MYOC may be associated with the severity of POAG.

关键词： primary open angle glaucoma myocilin mutation d384n T353I

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