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Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.

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.

SUBMITTER: Zhang Q

PROVIDER: S-EPMC5011706 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature

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Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.

Zhang Qi Q Xu Mingchu M Verriotto Jennifer D JD Li Yumei Y Wang Hui H Gan Lin L Lam Byron L BL Chen Rui R

Scientific reports 20160906

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 ach ...[more]

PMID: 27596865

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