Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.

ABSTRACT:

Purpose

To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous familial cases.

Methods

Seven large familial cases with multiple individuals diagnosed with retinitis pigmentosa were included in the study. Affected individuals in these families underwent ophthalmic examinations to document the symptoms and confirm the initial diagnosis. Blood samples were collected from all participating members, and genomic DNA was extracted. An exclusion analysis with microsatellite markers spanning the TULP1 locus on chromosome 6p was performed, and two-point logarithm of odds (LOD) scores were calculated. All coding exons along with the exon-intron boundaries of TULP1 were sequenced bidirectionally. We constructed a single nucleot

SUBMITTER: Ullah I 

PROVIDER: S-EPMC4947966 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature