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

• Published in: International journal of ophthalmology Vol. 6; no. 3; pp. 264 - 268
• Main Authors: Zhou, Xiao-Min, Yin, Yan, Fan, Ning, Cheng, Hong-Bo, Li, Xiao-Hong, Wang, Yun, Yu, Wen-Han, Cai, Su-Ping, Liu, Xu-Yang
• Format: Journal Article
• Language: English
• Published: China International Journal of Ophthalmology Press 2013; Press of International Journal of Ophthalmology (IJO PRESS)
• Subjects: angle; Basic Research; D384N; glaucoma; mutation; myocilin; open; primary; primary open angle glaucoma; T353I; myocilin; mutation; T353I; D384N; primary open angle glaucoma
• ISSN: 2222-3959; 2227-4898
• DOI: 10.3980/j.issn.2222-3959.2013.03.02

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.