Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.

ABSTRACT:

Purpose

This study was conducted to localize and identify causal mutations associated with autosomal recessive retinitis pigmentosa (RP) in consanguineous familial cases of Pakistani origin.

Methods

Ophthalmic examinations that included funduscopy and electroretinography (ERG) were performed to confirm the affectation status. Blood samples were collected from all participating individuals, and genomic DNA was extracted. A genome-wide scan was performed, and two-point logarithm of odds (LOD) scores were calculated. Sanger sequencing was performed to identify the causative variants. Subsequently, we performed whole exome sequencing to rule out the possibility of a second causal variant within the linkage interval. Sequence conservation was performed with alignment analyses of

SUBMITTER: Khan SY 

PROVIDER: S-EPMC4539017 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature