A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree.

ABSTRACT:

Background

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases. However, it is still not well understand about the relationship between PCDH15 variants and RP.

Methods

In this study, we enrolled a Chinese autosomal recessive retinitis pigmentosa (arRP) pedigree and identified the causative gene in the proband by targeted whole exome sequencing (WES). The variants were validated in the family members by Sanger sequencing and co-segregation analysis.

Results

Novel compound heterozygous, Frame shift variants of the PCDH15 gene, NM_001384140.1:c.4368 - 2147_4368-2131del and NM_001384140.1:c exon19:c.2505del: p. T836Lfs*6 were identified in the arRP pedigree, which co-segregated with the clinical RP phenotypes. The PCDH15 protein is highly cons

SUBMITTER: Yang H 

PROVIDER: S-EPMC11345949 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature