Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa

摘要: Purpose: Mutations in genes encoding proteins from the tri-snRNP complex of spliceosome account for more than 12% cases autosomal dominant retinitis pigmentosa (adRP). Although exact mechanism by which splicing factor defects trigger photoreceptor death is not completely clear, their role has been demonstrated several genetic and functional studies. To test possible novel associations between factors adRP, we screened four (EFTUD2, PRPF4, NHP2L1, AAR2) as candidate disease genes. Methods: We up to 303 patients with adRP Europe North America who did carry known RP mutations. Exon-PCR Sanger methods were used sequence NHP2L1 AAR2 genes, while sequences EFTUD2 PRPF4 obtained using long-range PCRs spanning coding non-coding regions followed next-generation sequencing. Results: detected missense changes individual EFTUD2, but these relationship could be verified. In one other patient identified a nucleotide substitution 5' untranslated region (UTR) segregate family. Conclusions: The absence clearly pathogenic mutations our cohort suggests that are either involved or associated rare instances, at least observed this study European American origin.