title: Myocilin mutations in black South Africans with POAG.
abstract: OBJECTIVE
  Myocilin (MYOC) mutations are associated with primary open-angle glaucoma (POAG) in multiple populations. Here we examined the role of MYOC mutations in a black South African population with primary open-angle glaucoma (POAG).
  
  
  METHODS
  Unrelated black South African subjects with POAG and unaffected controls were recruited from the St. John Eye Hospital (Soweto, Johannesburg, South Africa) and East London Hospital Complex (Eastern Cape, South Africa). A complete eye examination including visual field assessment was performed in all subjects. Blood samples were obtained for DNA extraction. The complete coding region of MYOC was sequenced using the PCR-based Sanger method. Identified mutations were compared to known MYOC mutations.
  
  
  RESULTS
  One hundred-thirteen POAG cases and 131 controls were recruited for analysis. A total of 19 variants were observed. Probable glaucoma-causing mutations were observed in 4.4% of POAG cases. A previously reported glaucoma-causing mutation, Tyr453MetfsX11, was observed in three cases and one control. Two other sequence variants, Gly374Val and Lys500Arg, occurred only in cases. Other sequence variants, including 6 novel variants, occurred in at least one control.
  
  
  CONCLUSIONS
  A small minority of black South Africans with POAG carry MYOC mutations. The Gly374Val mutation might represent a novel glaucoma-causing mutation. The Tyr453MetFSX11 mutation appears to be a glaucoma-causing mutation with incomplete penetrance.
authors.affiliation: Center for Human Genetics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Benjamin T
authors.initials: BT
authors.lastname: Whigham
authors.forename: Susan E I
authors.initials: SE
authors.lastname: Williams
authors.forename: Yutao
authors.initials: Y
authors.lastname: Liu
authors.forename: Robyn M
authors.initials: RM
authors.lastname: Rautenbach
authors.forename: Trevor R
authors.initials: TR
authors.lastname: Carmichael
authors.forename: Joshua
authors.initials: J
authors.lastname: Wheeler
authors.forename: Ari
authors.initials: A
authors.lastname: Ziskind
authors.forename: Xuejun
authors.initials: X
authors.lastname: Qin
authors.forename: Silke
authors.initials: S
authors.lastname: Schmidt
authors.forename: Michele
authors.initials: M
authors.lastname: Ramsay
authors.forename: Michael A
authors.initials: MA
authors.lastname: Hauser
authors.forename: R Rand
authors.initials: RR
authors.lastname: Allingham
mesh_terms: D000368:Aged; D044383:Black People / Q000235:genetics; D016022:Case-Control Studies; D003598:Cytoskeletal Proteins / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D013019:South Africa; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin