Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland

Li Zhao, Feng Wang, Hui Wang, Yumei Li, Sharon Alexander, Keqing Wang, Colin Willoughby, Jacques E. Zaneveld, Lichun Jiang, Zachry T. Soens, Philip Earle, David Simpson, Giuliana Silvestri, Rui Chen

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    Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by progressive photoreceptor degeneration. An accurate molecular diagnosis is essential for disease characterization and clinical prognoses. A retinal capture panel that enriches 186 known retinal disease genes, including 55 known RP genes, was developed. Targeted next-generation sequencing was performed for a cohort of 82 unrelated RP cases from Northern Ireland, including 46 simplex cases and 36 familial cases. Disease-causing mutations were identified in 49 probands, including 28 simplex cases and 21 familial cases, achieving a solving rate of 60 %. In total, 65 pathogenic mutations were found, and 29 of these were novel. Interestingly, the molecular information of 12 probands was neither consistent with their initial inheritance pattern nor clinical diagnosis. Further clinical reassessment resulted in a refinement of the clinical diagnosis in 11 patients. This is the first study to apply next-generation sequencing-based, comprehensive molecular diagnoses to a large number of RP probands from Northern Ireland. Our study shows that molecular information can aid clinical diagnosis, potentially changing treatment options, current family counseling and management.
    Original languageEnglish
    Pages (from-to)217-230
    Number of pages14
    JournalHuman Genetics
    Issue number2
    Early online date4 Dec 2014
    Publication statusPublished online - 4 Dec 2014


    • retinitis pigmentosa
    • next generation sequencing
    • Retinal Disease
    • Usher Syndrome
    • CDH23 Mutation
    • Retinitis Pigmentosa Patient


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