Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.

ABSTRACT:

Background

This study aimed to identify the gene variants and molecular etiologies in 76 unrelated Chinese families with retinitis pigmentosa (RP).

Methods

In total, 76 families with syndromic or nonsyndromic RP, diagnosed on the basis of clinical manifestations, were recruited for this study. Genomic DNA samples from probands were analyzed by targeted panels or whole exome sequencing. Bioinformatics analysis, Sanger sequencing, and available family member segregation were used to validate sequencing data and confirm the identities of disease-causing genes.

Results

The participants enrolled in the study included 62 families that exhibited nonsyndromic RP, 13 that exhibited Usher syndrome, and one that exhibited Bardet-Biedl syndrome. We found that 43 families (56.6%)

SUBMITTER: Dan H 

PROVIDER: S-EPMC7057118 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature