Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

doi:10.1007/s00439-013-1381-5

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Article

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

Human genetics - 1 Mar 2014

Wang Feng, Wang Hui, Tuan Han-Fang, Nguyen Duy H, Sun Vincent, Keser Vafa, Bowne Sara J, Sullivan Lori S, Luo Hongrong, Zhao Ling, Wang Xia, Zaneveld Jacques E, Salvo Jason S, Siddiqui Sorath, Mao Louise, Wheaton Dianna K, Birch David G, Branham Kari E, Heckenlively John R, Wen Cindy, Flagg Ken, Ferreyra Henry, Pei Jacqueline, Khan Ayesha, Ren Huanan, Wang Keqing, Lopez Irma, Qamar Raheel, Zenteno Juan C, Ayala-Ramirez Raul, Buentello-Volante Beatriz, Fu Qing, Simpson David A, Li Yumei, Sui Ruifang, Silvestri Giuliana, Daiger Stephen P, Koenekoop Robert K, Zhang Kang, Chen Rui

Abstract excerpt

Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant social and professional consequences. Molecular genetic information is invaluable for an accurate clinical diagnosis of RP due to its high genetic and clinical heterogeneity. Using a gene capture panel that covers 163 of the currently known retinal disease genes, including 48 RP genes, we performed a comprehensive molecular...

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PMID: 24154662
DOI: 10.1007/s00439-013-1381-5
PMCID: PMC3945441

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