Myocilin mutations in black South Africans with POAG

Benjamin T. Whigham, Susan E.I. Williams, Yutao Liu, Robyn M. Rautenbach, Trevor R. Carmichae, Joshua Wheeler, Ari Ziskind, Xuejun Qin, Silke Schmidt, Michele Ramsay, Michael A. Hauser, R. Rand Allingham

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13 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1064-1069
Number of pages6
JournalMolecular Vision
Volume17
StatePublished - Jan 1 2011

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Mutation
Glaucoma
South Africa
trabecular meshwork-induced glucocorticoid response protein
Primary Open Angle Glaucoma
Penetrance
Visual Fields
Population
Polymerase Chain Reaction
DNA

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Whigham, B. T., Williams, S. E. I., Liu, Y., Rautenbach, R. M., Carmichae, T. R., Wheeler, J., ... Rand Allingham, R. (2011). Myocilin mutations in black South Africans with POAG. Molecular Vision, 17, 1064-1069.

Myocilin mutations in black South Africans with POAG. / Whigham, Benjamin T.; Williams, Susan E.I.; Liu, Yutao; Rautenbach, Robyn M.; Carmichae, Trevor R.; Wheeler, Joshua; Ziskind, Ari; Qin, Xuejun; Schmidt, Silke; Ramsay, Michele; Hauser, Michael A.; Rand Allingham, R.

In: Molecular Vision, Vol. 17, 01.01.2011, p. 1064-1069.

Research output: Contribution to journalArticle

Whigham, BT, Williams, SEI, Liu, Y, Rautenbach, RM, Carmichae, TR, Wheeler, J, Ziskind, A, Qin, X, Schmidt, S, Ramsay, M, Hauser, MA & Rand Allingham, R 2011, 'Myocilin mutations in black South Africans with POAG', Molecular Vision, vol. 17, pp. 1064-1069.
Whigham BT, Williams SEI, Liu Y, Rautenbach RM, Carmichae TR, Wheeler J et al. Myocilin mutations in black South Africans with POAG. Molecular Vision. 2011 Jan 1;17:1064-1069.
Whigham, Benjamin T. ; Williams, Susan E.I. ; Liu, Yutao ; Rautenbach, Robyn M. ; Carmichae, Trevor R. ; Wheeler, Joshua ; Ziskind, Ari ; Qin, Xuejun ; Schmidt, Silke ; Ramsay, Michele ; Hauser, Michael A. ; Rand Allingham, R. / Myocilin mutations in black South Africans with POAG. In: Molecular Vision. 2011 ; Vol. 17. pp. 1064-1069.
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N2 - 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.

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