The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotype.

ABSTRACT:

Purpose

To report the clinical and molecular features of a distinct form of transforming growth factor-β-induced (TGFBI) gene-linked corneal dystrophy exhibiting a new granular corneal dystrophy type I (CDGG1) phenotype.

Methods

A complete ophthalmologic examination was performed in all individuals of a Chinese family in which autosomal dominant transmission of the disease had been observed. DNA was obtained from the peripheral blood leukocytes of each participating subject. Genetic analyses included keratin 3 (KRT3), keratin 12 (KRT12), and TGFBI polymerase chain reaction (PCR) amplification and automated nucleotide sequencing of exons from the genomic DNA.

Results

The corneal phenotype in this pedigree was characterized by multiple bilateral dot-like, circular opaci

SUBMITTER: Zhu Y 

PROVIDER: S-EPMC3025098 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature