An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.

ABSTRACT:

Purpose

A genetic and clinical study of three unrelated Chinese pedigrees with a variable phenotype of lattice corneal dystrophy type I (LCD I).

Methods

The eyes of the patients were examined by slit lamp microscopy, and other clinical records were also collected. Genomic DNA was extracted from peripheral leukocytes of the affected patients and their family members. Exons of the transforming growth factor beta induced TGFBI gene were amplified by polymerase chain reaction and directly sequenced to verify the mutation. Fifty healthy volunteers were analyzed as normal controls.

Results

Variable atypical clinical features of LCD I were found by slit lamp microscopy in these three Chinese pedigrees. A heterozygous single base-pair transition from C to T (C417T), leading t

SUBMITTER: Liu Z 

PROVIDER: S-EPMC2443752 | biostudies-literature | 2008 Jun

REPOSITORIES: biostudies-literature