NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

ABSTRACT: The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE(®)) was established in an effort to facilitate basic and clinical research of human inherited eye disease. In order to provide high quality genetic testing to eyeGENE(®)'s enrolled patients which potentially aids clinical diagnosis and disease treatment, we carried out a pilot study and performed Next-generation sequencing (NGS) based molecular diagnosis for 105 Retinitis Pigmentosa (RP) patients randomly selected from the network. A custom capture panel was designed, which incorporated 195 known retinal disease genes, including 61 known RP genes. As a result, disease-causing mutations were identified in 52 out of 105 probands (solving rate of 49.5%). A total of 82 mutations were identified, and 48 of them were nov

SUBMITTER: Ge Z 

PROVIDER: S-EPMC4678898 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature