Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.

ABSTRACT:

Purpose

This study was undertaken to investigate the causal mutations responsible for autosomal recessive congenital stationary night blindness (CSNB) in consanguineous Pakistani families.

Methods

Two consanguineous families with multiple individuals manifesting symptoms of stationary night blindness were recruited. Affected individuals underwent a detailed ophthalmological examination, including fundus examination and electroretinography. Blood samples were collected and genomic DNA was extracted. Exclusion analyses were completed by genotyping closely spaced microsatellite markers, and two-point logarithm of odds (LOD) scores were calculated. All coding exons, along with the exon-intron boundaries of GRM6, were sequenced bidirectionally.

Results

According to the med

SUBMITTER: Naeem MA 

PROVIDER: S-EPMC4636350 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature