Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.

ABSTRACT:

Purpose

To identify the molecular basis of non-syndromic autosomal recessive congenital cataracts (arCC) in a consanguineous family.

Methods

All family members participating in the study received a comprehensive ophthalmic examination to determine their ocular phenotype and contributed a blood sample, from which genomic DNA was extracted. Available medical records and interviews with the family were used to compile the medical history of the family. The symptomatic history of the individuals exhibiting cataracts was confirmed by slit-lamp biomicroscopy. A genome-wide linkage analysis was performed to localize the disease interval. The candidate gene, LIM2 (lens intrinsic membrane protein 2), was sequenced bi-directionally to identify the disease-causing mutation. The physica

SUBMITTER: Irum B 

PROVIDER: S-EPMC5096708 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature