Uncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients.

ABSTRACT:

Aim

To uncover the mutations profile of transforming growth factor beta-induced (TGFBI) gene in Chinese corneal dystrophy patients and further investigate the characteristics of genotype-phenotype correlations.

Methods

Forty-two subjects (6 unrelated families including 15 patients and 8 unaffected members, and 19 sporadic patients) of Chinese origin 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.

Results

We detected four corneal dystrophy types. The most frequent phenotypes were granular corneal dystrophy (GCD) (including 3 families and 8 sporadic patients) and lattice corneal dystrophy (LCD) (i

SUBMITTER: Hao XD 

PROVIDER: S-EPMC4761727 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature