title: Single nucleotide polymorphism of MYOC affected the severity of primary open angle glaucoma.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Regenerative Medicine Research Center, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China.
authors.forename: Xiao-Min
authors.initials: XM
authors.lastname: Zhou
authors.forename: Yan
authors.initials: Y
authors.lastname: Yin
authors.forename: Ning
authors.initials: N
authors.lastname: Fan
authors.forename: Hong-Bo
authors.initials: HB
authors.lastname: Cheng
authors.forename: Xiao-Hong
authors.initials: XH
authors.lastname: Li
authors.forename: Yun
authors.initials: Y
authors.lastname: Wang
authors.forename: Wen-Han
authors.initials: WH
authors.lastname: Yu
authors.forename: Su-Ping
authors.initials: SP
authors.lastname: Cai
authors.forename: Xu-Yang
authors.initials: XY
authors.lastname: Liu
keywords: D384N; T353I; mutation; myocilin; primary open angle glaucoma