Transforming growth factor β induced mutation-associated phenotype in a Chinese family exhibiting lattice corneal dystrophy.

ABSTRACT: Lattice corneal dystrophy type I (LCDI) is associated with a large number of missense mutations in the transforming growth factor β induced (TGFBI) gene. The aim of the present study was to analyze TGFBI mutation in a Chinese family with LCDI, and to describe the clinical features and phenotype-genotype correlation within this family. Three generations of this family with LCDI were enrolled in the current study. Complete ophthalmic examinations were performed on all family members and mutation screenings of the coding regions of TGFBI were analyzed using a direct sequencing method. All family members underwent slit-lamp examination, and two patients and one of normal members in the family were evaluated by laser scanning in vivo confocal microscopy. A single heterozygous c.370C>T (p.R124C)

SUBMITTER: Qu C 

PROVIDER: S-EPMC5649572 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature