Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.

ABSTRACT:

Purpose

To investigate whether three consanguineous families from the Punjab province of Pakistan, with affected members with recessively inherited congenital cataract microcornea with corneal opacity, are genetically homogeneous.

Methods

An ophthalmic examination was performed on each family member to establish the diagnosis. The two largest families were analyzed by homozygosity mapping using SNP arrays. Linkage was confirmed using polymorphic microsatellite markers, and logarithm of odds (LOD) scores were calculated. Candidate genes were prioritized using the ENDEAVOUR program.

Results

Autosomal recessive congenital cataract-microcornea with corneal opacity mapped to chromosome 10cen for family MEP57 and to either chromosomes 2ptel or 20p for family MEP60. For MEP5

SUBMITTER: Khan K 

PROVIDER: S-EPMC3175982 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature