Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Invest Ophthalmol Vis Sci. 2014 Apr 7;55(4):2259-68. doi: 10.1167/iovs.13-13567.
To identify disease-causing mutations and describe genotype-phenotype correlations in Thai patients with nonsyndromic retinitis pigmentosa (RP).
Whole exome sequencing was performed in 20 unrelated patients. Eighty-six genes associated with RP, Leber congenital amaurosis, and cone-rod dystrophy were analyzed for variant detection.
Seventeen variants (13 novel and 4 known) in 13 genes were identified in 11 patients. These variants include 10 missense substitutions, 2 nonsense mutations, 3 deletions, 1 insertion, and 1 splice site change. Nine patients with identified inheritance patterns carried a total of 10 potentially pathogenic mutations located in genes CRB1, C8orf37, EYS, PROM1, RP2, and USH2A. Three of the nine patients also demonstrated additional heterozygous variants in genes ABCA4, GUCY2D, RD3, ROM1, and TULP1. In addition, two patients carried variants of uncertain significance in genes FSCN2 and NR2E3. The RP phenotypes of our patients were consistent with previous reports.
This is the first report of mutations in Thai RP patients. These findings are useful for genotype-phenotype comparisons among different ethnic groups.
鉴定非综合征性视网膜色素变性（RP）泰国患者的致病突变，并描述基因型-表型相关性。
对 20 名无血缘关系的患者进行全外显子组测序。对与 RP、先天性黑矇 Leber 和圆锥-杆状细胞营养不良相关的 86 个基因进行变异检测。
在 11 名患者中发现了 13 个基因中的 17 个变异（13 个新变异和 4 个已知变异）。这些变异包括 10 个错义替换、2 个无义突变、3 个缺失、1 个插入和 1 个剪接位点改变。9 名具有明确遗传模式的患者共携带 10 个位于 CRB1、C8orf37、EYS、PROM1、RP2 和 USH2A 基因中的潜在致病突变。这 9 名患者中的 3 名还在 ABCA4、GUCY2D、RD3、ROM1 和 TULP1 基因中表现出额外的杂合变异。此外，还有 2 名患者在 FSCN2 和 NR2E3 基因中携带意义不明的变异。我们患者的 RP 表型与之前的报告一致。
这是泰国 RP 患者突变的首次报告。这些发现有助于不同种族群体之间的基因型-表型比较。
