Title | Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. |
Publication Type | Journal Article |
Year of Publication | 2016 |
Authors | Zhang, Q, Xu, M, Verriotto, JD, Li, Y, Wang, H, Gan, L, Lam, BL, Chen, R |
Journal | Sci Rep |
Volume | 6 |
Pagination | 32792 |
Date Published | 2016 Sep 06 |
ISSN | 2045-2322 |
Keywords | Alleles, Eye Proteins, Female, High-Throughput Nucleotide Sequencing, Hispanic or Latino, Humans, Male, Mutation, Pedigree, Retinitis Pigmentosa, RNA Splicing |
Abstract | Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases. The prevalence of RP and the mutation spectrum vary across populations. Hispanic people account for approximately 17% of the United States population, and the genetic etiologies of RP of this ethnic group still remain not well defined. Utilizing next-generation sequencing (NGS), we screened mutations in known retinal disease-causing genes in an RP cohort of 35 unrelated Hispanic probands from the Miami area. We achieved a solving rate of 66% and identified 15 novel putative pathogenic mutations, including a frequent founder mutation disrupting PRPF31 splicing. Our data show that the mutation spectrum of Hispanic RP receives a significant impact from disease-causing alleles of Spanish origin and may also contain population-specific alleles. |
DOI | 10.1038/srep32792 |
Alternate Journal | Sci Rep |
PubMed ID | 27596865 |
PubMed Central ID | PMC5011706 |
Grant List | P30 EY002520 / EY / NEI NIH HHS / United States P30 EY014801 / EY / NEI NIH HHS / United States R01 EY018571 / EY / NEI NIH HHS / United States R01 EY022356 / EY / NEI NIH HHS / United States |
Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.
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