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.
Highlights
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases
A total of 35 probands with a primary diagnosis of RP were recruited in our research
In proband BLM037, we identified a PRPF31 frameshift mutation previously reported in a large Mexican family (c.866_879delGGAAAGCGGCCCGG, p.R289Pfs*30)[7]
Summary
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases. The prevalence of RP and the mutation spectrum vary across populations. Utilizing next-generation sequencing (NGS), we screened mutations in known retinal diseasecausing genes in an RP cohort of 35 unrelated Hispanic probands from the Miami area. Customized target capture sequencing was used to screen mutations in known disease-causing genes with high efficiency. By this method, novel disease-causing alleles as well as genotype-phenotype correlations have been identified, leading to a substantial enhancement of our understanding of allele pathogenicity, protein function and population genetics. Hispanic Americans are residents of the United States (US) descending from Latin America countries or Iberian peninsula[5] They account for 17% of US population and represent a fast-growing ethnic group[6], highlighting a need for understanding the molecular basis of genetic disorders. Our data helped to solve 23 probands and revealed potential characteristics of RP mutation spectrum in this population
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