Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy.

ABSTRACT:

Aim

To report a phenotypic variant pedigree of lattice corneal dystrophy (LCD) associated with two mutations, R124C and A546D, in the transforming growth factor beta-induced gene (TGFBI).

Methods

A detailed ocular examination was taken for all participants of a LCD family. Peripheral blood leukocytes from each participant were extracted to obtain the DNA. Polymerase chain reaction (PCR) of all seventeen exons of TGFBI gene was performed. The products were sequenced and analyzed. Histological examination was carried out after a penetrating keratoplasty from the right eye of proband.

Results

Genetic analysis showed that the proband and all 6 affected individuals harbored both a heterozygous CGC to TGC mutation at codon 124 and a heterozygous GCC to GAC mutation at codon

SUBMITTER: Cao WP 

PROVIDER: S-EPMC5360766 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature