Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

ABSTRACT:

Purpose

The aim of this study is to identify the molecular basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous pedigree.

Methods

All participating individuals underwent a detailed ophthalmic examination. Each patient's medical history, particularly of cataracts and other ocular abnormalities, was compiled from available medical records and interviews with family elders. Blood samples were donated by all participating family members and used to extract genomic DNA. Genetic analysis was performed to rule out linkage to known arCC loci and genes. Whole-exome sequencing libraries were prepared and paired-end sequenced. A large deletion was found that segregated with arCC in the family, and chromosome walking was conducted to estimate the proximal a

SUBMITTER: Irum B 

PROVIDER: S-EPMC5147899 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature