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Hui Wang, Feng Wang, Ruifang Sui, Rui Chen; Comprehensive molecular diagnosis of a large Chinese RP cohort. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):1253.
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© ARVO (1962-2015); The Authors (2016-present)
Retinitis Pigmentosa (RP) is a clinically and genetically heterogeneous retinal disorder, which affects about 1 in 4,000 people around the world. In order to evaluate the mutation spectrum in the Chinese population, we performed the mutation screen in 219 Chinese RP probands.
We developed a capture panel that enriches the entire coding exons and splicing sites of 163 known retinal disease genes and other candidate retinal disease genes. By using a comprehensive molecular diagnosis, we performed the mutation screen in a large Chinese RP cohort. Systematic NGS data analysis, Sanger sequencing validation, and segregation analysis were utilized to identify the pathogenic mutations. <br />
Pathogenic mutations with high confidence were identified in 112 probands and pathogenic mutations with low confidence were identified in 38 probands. A large number of novel pathogenic mutations were found by panel sequencing, so we concluded that the mutation spectrum in Chinese population is distinct compared to that in European population. <br />
Our results highlight the importance of molecular diagnosis as an integral part of clinical diagnosis.<br />
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