A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.

ABSTRACT:

Background

Retinitis pigmentosa (RP) is one of the most frequent hereditary retinal diseases that often starts with night blindness and eventually leads to legal blindness. Our study aimed to identify the underlying genetic cause of autosomal recessive retinitis pigmentosa (arRP) in a consanguineous Pakistani family.

Methods

Following a detailed ophthalmological examination of the patients by an ophthalmologist, whole-exome sequencing was performed on the proband's DNA to delineate the genetic cause of RP in the family. In-depth computational methods, in-silico analysis, and familial co-segregation study were performed for variant detection and validation.

Results

We studied an inbred Pakistani family with two siblings affected by retinitis pigmentosa. The proband, a

SUBMITTER: Aziz N 

PROVIDER: S-EPMC10035148 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature