Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.

ABSTRACT:

Purpose

To identify the genetic origins of autosomal recessive congenital cataracts (arCC) in the Pakistani population.

Methods

Based on the hypothesis that most arCC patients in consanguineous families in the Punjab areas of Pakistan should be homozygous for causative mutations, affected individuals were screened for homozygosity of nearby highly informative microsatellite markers and then screened for pathogenic mutations by DNA sequencing. A total of 83 unmapped consanguineous families were screened for mutations in 33 known candidate genes.

Results

Patients in 32 arCC families were homozygous for markers near at least 1 of the 33 known CC genes. Sequencing the included genes revealed homozygous cosegregating sequence changes in 10 families, 2 of which had the same

SUBMITTER: Chen J 

PROVIDER: S-EPMC5397132 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature