A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree.

ABSTRACT:

Background

To investigate the molecular defects in a four-generation Chinese pedigree affected with Thiel-Behnke corneal dystrophy (TBCD). And to further study the relationship between genetic mutation and clinical manifestations.

Methods

Individuals of the pedigree were recruited for extensive ophthalmic examinations. Histological studies of two corneal buttons obtained from lamellar keratoplasty were conducted. Peripheral blood was collected in EDTA for genomic DNA isolation from leukocytes of all affected and unaffected members. All 17 exons of the TGFBI gene were screened for mutations by polymerase chain reaction and direct DNA sequencing.

Results

Clinical examinations revealed a typical pattern of honeycomb-like TBCD. Histopathology study demonstrated eosinophil

SUBMITTER: Yu Y 

PROVIDER: S-EPMC4605025 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature