Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations.

ABSTRACT:

Purpose

To characterize the clinical phenotype, histopathological features, and molecular genetic basis of an Avellino corneal dystrophy (ACD) in a Chinese family.

Methods

A complete ophthalmologic examination was performed in 21 individuals (6 affected and 15 unaffected) of the four-generation family. DNA was obtained from peripheral blood leukocytes of each participant. Genetic analysis included TGFBI polymerase chain reaction (PCR) amplification and automated nucleotidic sequenceing of all 17 exons of genomic DNA. Histological analysis of corneal tissue from the proband was performed after a penetrating keratoplasty. One hundred Chinese controls were scanned for the presence of the R124H mutation by amplifying TGFBI exon 4 and then by direct sequencing of PCR products.

SUBMITTER: Cao W 

PROVIDER: S-EPMC2622714 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature