Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
复制标题
靶向下一代测序在无关的中国患者中发现了与色素性视网膜炎和莱伯先天性黑蒙相关的 RPGRIP1 的新突变
DOI：
10.18632/oncotarget.17052
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发表时间：
2017-05-23
期刊：
影响因子：
--
通讯作者：
Liu X
中科院分区：
文献类型：
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作者：
Huang H;Wang Y;Chen H;Chen Y;Wu J;Chiang PW;Fan N;Su Y;Deng J;Chen D;Li Y;Zhang X;Zhang M;Liang S;Banerjee S;Qi M;Liu X
作为最常见的遗传性视网膜变性，视网膜色素变性在临床上和遗传上是不同的。一些RP基因还与其他视网膜疾病有关，如LCA(Leber先天性黑色素沉着症)和脊髓(视锥-杆营养不良症)。在我们对99例中国RP患者的靶基因捕获测序的分子诊断中，发现3个先证者携带RPGRIP1突变，该突变与LCA和CORD的发病机制有关。通过进一步的临床分析，2名先证者被确认为RP患者，1名被确认为LCA患者。这些新的突变与他们家族中的疾病表型是共分离的。我们的结果不仅扩大了RPGRIP1基因的突变谱，而且为RP患者的临床诊断和分子治疗提供了支持。
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.