Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11.

ABSTRACT:

Objective

To map and identify the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2, OMIM 217700), a disorder characterised by diffuse bilateral corneal clouding that may lead to visual impairment and requiring corneal transplantation.

Methods

Members of 16 families with autosomal recessive CHED were genotyped for 13 microsatellite markers at the CHED2 locus on chromosome 20p13-12. Two-point linkage analysis was carried out using the FASTLINK version of the MLINK program. Mutation screening was carried out by amplification of exons and flanking regions by polymerase chain reaction, followed by direct automated sequencing.

Results

Linkage and haplotype analysis placed the disease locus within a 2.2 cM (1.3 Mb) interval flanked by D20S198 a

SUBMITTER: Jiao X 

PROVIDER: S-EPMC2597914 | biostudies-literature | 2007 Jan

REPOSITORIES: biostudies-literature