Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.

ABSTRACT:

Purpose

To identify the genetic basis of posterior amorphous corneal dystrophy (PACD) segregating in a large pedigree.

Methods

The authors performed clinical evaluation of a previously unreported pedigree with PACD, light and electron microscopic examination of an excised corneal button, genomewide linkage analysis, fine mapping linkage and haplotype analysis, and screening of four candidate genes (KERA, LUM, DCN, and EPYC).

Results

Twenty-one participants were determined to be affected based on the presence of characteristic clinical features of PACD; 15 affected and 39 unaffected individuals from a single pedigree enrolled in the study and provided DNA for analysis. Histopathologic examination of an excised corneal specimen from an affected individual demonstrated d

SUBMITTER: Aldave AJ 

PROVIDER: S-EPMC2910638 | biostudies-literature | 2010 Aug

REPOSITORIES: biostudies-literature