Single nucleotide polymorphism of MYOC affected the severity of primary open angle glaucoma
| Autor: | Su-Ping Cai, Wen-Han Yu, Yun Wang, Hong-Bo Cheng, Xiao-Hong Li, Ning Fan, Yan Yin, Xiao-Min Zhou, Xu-Yang Liu |
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| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: | |
| Zdroj: | International Journal of Ophthalmology, Vol 6, Iss 3, Pp 264-268 (2013) |
| Druh dokumentu: | article |
| ISSN: | 2222-3959 2227-4898 |
| DOI: | 10.3980/j.issn.2222-3959.2013.03.02 |
| Popis: | 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: The family was composed of three members, 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 who presented with more severe clinical manifestations, suggesting that T353I polymorphism of MYOC may be associated with the severity of POAG. |
| Databáze: | Directory of Open Access Journals |
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