Whigham Benjamin T, Williams Susan E I, Liu Yutao, Rautenbach Robyn M, Carmichael Trevor R, Wheeler Joshua, Ziskind Ari, Qin Xuejun, Schmidt Silke, Ramsay Michele, Hauser Michael A, Allingham R Rand
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA.
Mol Vis. 2011 Apr 27;17:1064-9.
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).
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.
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.
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.
在多个人群中，肌纤蛋白（MYOC）突变与原发性开角型青光眼（POAG）相关。在此，我们研究了MYOC突变在南非黑人原发性开角型青光眼（POAG）人群中的作用。
从圣约翰眼科医院（南非约翰内斯堡索韦托）和东伦敦医院综合院区（南非东开普省）招募患有POAG的无血缘关系的南非黑人受试者和未受影响的对照者。对所有受试者进行了包括视野评估在内的全面眼部检查。采集血样用于DNA提取。使用基于PCR的桑格法对MYOC的完整编码区进行测序。将鉴定出的突变与已知的MYOC突变进行比较。
招募了113例POAG病例和131名对照者进行分析。共观察到19个变异。在4.4%的POAG病例中观察到可能导致青光眼的突变。在3例病例和1名对照者中观察到先前报道的导致青光眼的突变Tyr453MetfsX11。另外两个序列变异Gly374Val和Lys500Arg仅出现在病例中。其他序列变异，包括6个新变异，在至少1名对照者中出现。
一小部分患有POAG的南非黑人携带MYOC突变。Gly374Val突变可能代表一种新的导致青光眼的突变。Tyr453MetFSX11突变似乎是一种具有不完全外显率的导致青光眼的突变。
