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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Myocilin mutations in black South Africans with POAG
Molecular Vision, Volume 17, Year 2011
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Description
Purpose: 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.
Authors & Co-Authors
Whigham, Benjamin T.
United States, Durham
Duke University Medical Center
Williams, Susan E.I.
South Africa, Johannesburg
University of the Witwatersrand
Liu, Yutao
United States, Durham
Duke University Medical Center
Rautenbach, Robyn M.
South Africa, Stellenbosch
Stellenbosch University
Carmichae, Trevor R.
South Africa, Johannesburg
University of the Witwatersrand
Wheeler, Joshua
United States, Durham
Duke University Medical Center
Ziskind, Ari
South Africa, Stellenbosch
Stellenbosch University
Qin, Xuejun
United States, Durham
Duke University Medical Center
Schmidt, Silke
United States, Durham
Duke University Medical Center
Ramsay, Michèle
South Africa, Johannesburg
University of the Witwatersrand
Hauser, Michael Arthur
United States, Durham
Duke University Medical Center
United States, Durham
Duke Eye Center
Allingham, Robert Rand
United States, Durham
Duke Eye Center
Statistics
Citations: 12
Authors: 12
Affiliations: 4
Identifiers
e-ISSN:
10900535
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Design
Cross Sectional Study
Study Locations
South Africa