Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.

ABSTRACT:

Purpose

To analyze human transforming growth factor b-induced (TGFBI) gene mutations in Chinese patients with corneal dystrophies (CDs).

Methods

Twenty-one families with corneal dystrophies were subjected to phenotypic and genotypic characterization. The corneal phenotypes of patients were documented by slit lamp photography. Mutation screening of the coding regions of TGFBI was performed by direct sequencing. An additional 43 families and 3 sporadic patients with TGFBI dystrophies from China reported in the literature were reviewed.

Results

Five mutations of TGFBI were identified in 21 families with CDs, including one novel small deletion mutation, c.delta1838-1849 (p.Delta613-616VAEP), responsible for one variant lattice CD (LCD) family and 4 known mutations, R555W

SUBMITTER: Yang J 

PROVIDER: S-EPMC2901189 | biostudies-literature | 2010 Jun

REPOSITORIES: biostudies-literature