Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa.

ABSTRACT:

Background

Retinitis pigmentosa (RP) is the most common form of inherited retinal degeneration, but genetic defects in nearly half of families remain unresolved. This study aims to identify novel genes associated with RP based on whole exome sequencing (WES) data from 552 probands with RP.

Methods

Biallelic loss-of-function (LoF) variants were selected from the WES data of 552 probands with RP and compared with that of 4728 in-house controls and the gnomAD database. Expression analysis and knockout mice model or knockdown zebrafish model were performed to confirm the association of a few candidate genes with RP.

Findings

Unique biallelic LoF variants in ENSA, DACT2, DDR1, and CCDC188 were identified in four probands with RP, but were absent in 4728 in-house controls a

SUBMITTER: Yi Z 

PROVIDER: S-EPMC7248430 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature