Myocilin mutations in black South Africans with POAG

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dc.contributor.authorWhigham B.T.
dc.contributor.authorWilliams S.E.I.
dc.contributor.authorLiu Y.
dc.contributor.authorRautenbach R.M.
dc.contributor.authorCarmichae T.R.
dc.contributor.authorWheeler J.
dc.contributor.authorZiskind A.
dc.contributor.authorQin X.
dc.contributor.authorSchmidt S.
dc.contributor.authorRamsay M.
dc.contributor.authorHauser M.A.
dc.contributor.authorRand Allingham R.
dc.date.accessioned2011-05-25T08:49:52Z
dc.date.available2011-05-25T08:49:52Z
dc.date.issued2011
dc.description.abstractPurpose: 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 glaucomacausing 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. © 2011 Molecular Vision.
dc.description.versionArticle
dc.identifier.citationMolecular Vision
dc.identifier.citation17
dc.identifier.citation1064
dc.identifier.citation1069
dc.identifier.issn10900535
dc.identifier.urihttp://hdl.handle.net/10019.1/14722
dc.titleMyocilin mutations in black South Africans with POAG
dc.typeArticle
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