The study aimed to screen for the causative variants in Chinese patients with suspected retinitis pigmentosa (RP). A cohort of 75 unrelated Chinese patients with a clinical diagnosis of RP and their available family members were enrolled in this study. Genomic DNA of all subjects was extracted and whole-exome sequencing (WES) was applied. Candidate variants were identified, and minigene assays were conducted to evaluate the pathogenicity of novel splicing variants. Totally, the diagnostic yield was 44 % (33/75) and 16 novel variants that had not been reported previously were found. Among the genetically solved 33 cases, 31 patients were identified as carrying causative variants of RP and 2 patients carried pathogenic variants implicated in other retinal diseases. USH2A, CYP4V2, and RPGR were the most common causative genes, accounting for about half of the genetically solved cases. Moreover, minigene assays validated that the novel splicing variants were detrimental. Additionally, 9 patients carried a single deleterious heterozygous variant in 6 genes with autosomal recessive hereditary patterns, and no corresponding copy number variants (CNVs) was detected. The findings of this study revealed the genetic landscape of RP in China and provided guidance for clinicians.
Keywords: Genetics; Retinitis pigmentosa; Variants; Whole-exome sequencing.
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