Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin, 300384, China.
BMC Ophthalmol. 2021 Oct 11;21(1):360. doi: 10.1186/s12886-021-02125-9.
To explore the molecular genetic cause of a four-generation autosomal dominant retinitis pigmentosa family in China.
Targeted region sequencing was performed to detect the potential mutation, and Sanger sequencing was used to validate the mutation. Multiple sequence alignment from different species was performed by CLUSTALW. The structures of wild-type and the mutant RHO were modeled by Swiss-Model Server and shown using a PyMOL Molecular Graphic system.
A novel heterozygous nonsense mutation (c.1015 A > T, p.Lys339Ter, p.K339X) within RHO, which cosegregated with retinitis pigmentosa phenotype was detected in this family. Bioinformatics analysis showed the mutation was located in a highly conserved region, and the mutation was predicted to be pathogenic.
We identified a novel heterozygous nonsense mutation of RHO gene in a Chinese family with retinitis pigmentosa by target region sequencing and our bioinformatics analysis indicated that the mutation is pathogenic. Our results can broaden the spectrum of RHO gene mutation and enrich the phenotype-genotype correlation of retinitis pigmentosa.
探索一个四代常染色体显性遗传视网膜色素变性家系的分子遗传学病因。
采用靶向区域测序检测潜在突变，并用 Sanger 测序验证突变。通过 CLUSTALW 进行来自不同物种的多重序列比对。使用 Swiss-Model Server 对野生型和突变型 RHO 进行结构建模，并使用 PyMOL 分子图形系统进行展示。
在该家族中发现了 RHO 内一个新的杂合无义突变（c.1015A>T，p.Lys339Ter，p.K339X），该突变与视网膜色素变性表型共分离。生物信息学分析表明该突变位于高度保守区域，且该突变被预测为致病性的。
我们通过靶向区域测序发现了一个中国视网膜色素变性家系中的 RHO 基因的一个新的杂合无义突变，我们的生物信息学分析表明该突变是致病性的。我们的结果可以拓宽 RHO 基因突变谱，并丰富视网膜色素变性的表型-基因型相关性。
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