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Xianjun Zhu, Lulin Huang, Yang Li, Peiquan Zhao, Zhenglin Yang; Molecular analysis of a large cohort of Chinese patients with retinitis pigmentosa by Whole exome next generation sequencing. Invest. Ophthalmol. Vis. Sci. 2014;55(13):3260.
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Retinitis pigmentosa (RP) is a group of inherited retinal diseases that often lead to severe visual defect and blindness. Because of the genetic heterogeneity of RP, an accurate molecular diagnosis is needed to improve the clinical diagnosis, facilitate a more accurate description of prognosis, and allow individual gene treatment.
Whole genome exome sequencing (WES) has been recently used for the molecular diagnosis of eye diseases. In this study, we recruited and totally sequenced a large cohort of 45 small families and 48 sporadic patients with RP to find out disease mutations of known RP genes to develop a comprehensive molecular diagnostic method for RP and potentially for other retinal diseases.
Pathogenic mutations for 21 families and 35 sporadic patients were identified by systematic WES data analysis and verified by Sanger sequencing validation.
We have identified a large number of mutations in Chines patients with RP. Our study provides important information on mutation spectrum of Chinese RP patient.
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