Huang Hui, Wang Ying, Chen Huishuang, Chen Yanhua, Wu Jing, Chiang Pei-Wen, Fan Ning, Su Yan, Deng Jianlian, Chen Dongna, Li Yang, Zhang Xinxin, Zhang Mengxin, Liang Shengran, Banerjee Santasree, Qi Ming, Liu Xuyang
BGI-Shenzhen, Shenzhen, China.
Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
Oncotarget. 2017 May 23;8(21):35176-35183. doi: 10.18632/oncotarget.17052.
As the most common inherited retinal degenerations, retinitis pigmentosa (RP) is clinically and genetically heterogeneous. Some of the RP genes are also associated with other retinal diseases, such as LCA (Leber's congenital amaurosis) and CORD (cone-rod dystrophy). Here, in our molecular diagnosis of 99 Chinese RP patients using targeted gene capture sequencing, three probands were found to carry mutations of RPGRIP1, which was known to be associated with pathogenesis of LCA and CORD. By further clinical analysis, two probands were confirmed to be RP patients and one was confirmed to be LCA patient. These novel mutations were co-segregated with the disease phenotype in their families. Our result not only expands the mutational spectrum of the RPGRIP1 gene but also gives supports to clinical diagnosis and molecular treatment of RP patients.
作为最常见的遗传性视网膜变性疾病，视网膜色素变性（RP）在临床和遗传方面具有异质性。一些RP基因也与其他视网膜疾病相关，如莱伯先天性黑矇（LCA）和锥杆营养不良（CORD）。在此，我们运用靶向基因捕获测序技术对99例中国RP患者进行分子诊断时，发现3名先证者携带RPGRIP1基因突变，已知该基因与LCA和CORD的发病机制有关。通过进一步临床分析，两名先证者被确诊为RP患者，一名被确诊为LCA患者。这些新突变在其家族中与疾病表型共分离。我们的研究结果不仅扩展了RPGRIP1基因的突变谱，也为RP患者的临床诊断和分子治疗提供了支持。
