The Structural Abnormalities Are Deeply Involved in the Cause of <i>RPGRIP1</i>-Related Retinal Dystrophy in Japanese Patients.

ABSTRACT: Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy. RPGRIP1-related LCA accounts for 5-6% of LCA. We performed whole-exome sequencing and whole-genome sequencing (WGS) on 29 patients with clinically suspected LCA and examined ophthalmic findings in patients with biallelic pathogenic variants of RPGRIP1. In addition to five previously reported cases, we identified five cases from four families with compound heterozygous RPGRIP1 variants using WGS. Five patients had null variants comprising frameshift variants, an Alu insertion, and microdeletions. A previously reported 1339 bp deletion involving exon 18 was found in four cases, and the deletion was relatively prevalent in the Japanese population (allele frequency: 0.002). Micr

SUBMITTER: Torii K 

PROVIDER: S-EPMC10531429 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature