Single nucleotide polymorphism of MYOC affected the severity of primary open angle glaucoma
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National Nature Science Foundation of China (No.81170851)

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    Abstract:

    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.

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Xiao-Min Zhou, Yan Yin, Ning Fan, et al. Single nucleotide polymorphism of MYOC affected the severity of primary open angle glaucoma. Int J Ophthalmol, 2013,6(3):264-268

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Publication History
  • Received:April 23,2013
  • Revised:May 10,2013
  • Adopted:May 10,2013
  • Online: June 24,2013
  • Published: