Abu-Amero Khaled K, Kalantan Hatem, Al-Muammar Abdulrahman M
Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, SaudiArabia.
Mol Vis. 2011 Mar 8;17:667-72.
To screen the visual system homebox 1 (VSX1) gene in Saudi Arabian keratoconus patients.
We sequenced the entire coding region, exon-intron boundaries in clinically confirmed keratoconus patients (n=55) and 50 ethnically matched healthy controls. All cases and controls were unrelated.
Sequencing VSX1 revealed the presence of five nucleotide changes, 3 of which were non-coding (g.8326 G>A, g.10945 G>T, and g.11059 A>C) and 2 were synonymous-coding sequence changes (g.5053 G>T and g.8222 A>G). All five sequence changes were benign polymorphisms with no apparent clinical significance.
In our keratoconus cohort, no pathogenic VSX1 mutation(s) were identified.
筛查沙特圆锥角膜患者的视系统同源盒1（VSX1）基因。
我们对临床确诊的圆锥角膜患者（n = 55）和50名种族匹配的健康对照者的整个编码区、外显子 - 内含子边界进行了测序。所有病例和对照均无亲缘关系。
对VSX1进行测序发现存在五个核苷酸变化，其中3个为非编码区变化（g.8326 G>A、g.10945 G>T和g.11059 A>C），2个为同义编码序列变化（g.5053 G>T和g.8222 A>G）。所有这五个序列变化均为良性多态性，无明显临床意义。
在我们的圆锥角膜队列中，未发现致病性VSX1突变。
