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

Qi Zhang, Mingchu Xu, Jennifer D. Verriotto, Yumei Li, Hui Wang, Lin Gan, Byron L. Lam, Rui Chen

Research output: Contribution to journalArticlepeer-review

41 Scopus citations


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.

Original languageEnglish (US)
Article number32792
JournalScientific reports
StatePublished - Sep 6 2016
Externally publishedYes

ASJC Scopus subject areas

  • General


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