Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.

ABSTRACT: Inherited retinal dystrophies are phenotypically and genetically heterogeneous. This extensive heterogeneity poses a challenge when performing molecular diagnosis of patients, especially in developing countries. In this study, we applied homozygosity mapping as a tool to reduce the complexity given by genetic heterogeneity and identify disease-causing variants in consanguineous Pakistani pedigrees. DNA samples from eight families with autosomal recessive retinal dystrophies were subjected to genome wide homozygosity mapping (seven by SNP arrays and one by STR markers) and genes comprised within the detected homozygous regions were analyzed by Sanger sequencing. All families displayed consistent autozygous genomic regions. Sequence analysis of candidate genes identified four previously-repo

SUBMITTER: Saqib MA 

PROVIDER: S-EPMC4421863 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature