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

TitleNGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Publication TypeJournal Article
Year of Publication2015
AuthorsGe, Z, Bowles, K, Goetz, K, Scholl, HPN, Wang, F, Wang, X, Xu, S, Wang, K, Wang, H, Chen, R
JournalSci Rep
Date Published2015 Dec 15
KeywordsAntigens, Neoplasm, Cell Cycle Proteins, Child, Child, Preschool, Cohort Studies, Cytoskeletal Proteins, Female, Genetic Association Studies, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Inheritance Patterns, Male, Molecular Diagnostic Techniques, Mutation, Neoplasm Proteins, Pedigree, Phenotype, Receptors, G-Protein-Coupled, Receptors, Glutamate, Retinitis Pigmentosa

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 novel. Interestingly, for three probands the molecular diagnosis was inconsistent with the initial clinical diagnosis, while for five probands the molecular information suggested a different inheritance model other than that assigned by the physician. In conclusion, our study demonstrated that NGS target sequencing is efficient and sufficiently precise for molecular diagnosis of a highly heterogeneous patient cohort from eyeGENE(®).

Alternate JournalSci Rep
PubMed ID26667666
PubMed Central IDPMC4678898
Grant List1S10RR026550 / RR / NCRR NIH HHS / United States
2T32EY007102-21A1 / EY / NEI NIH HHS / United States
S10 RR026550 / RR / NCRR NIH HHS / United States
R01 EY022356 / EY / NEI NIH HHS / United States
P30 EY002520 / EY / NEI NIH HHS / United States
R01EY022356 / EY / NEI NIH HHS / United States
T32 EY007102 / EY / NEI NIH HHS / United States

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