Analysis of human transforming growth factor beta-induced gene mutation in corneal dystrophy.
- Author:
Yang LI
1
;
Xu-guang SUN
;
Hui-yuan REN
;
Bing DONG
;
Zhi-qun WANG
;
Xiu-ying SUN
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Child; Child, Preschool; Corneal Dystrophies, Hereditary; genetics; pathology; Extracellular Matrix Proteins; genetics; Female; Humans; Male; Middle Aged; Mutation; Transforming Growth Factor beta; genetics
- From: Chinese Medical Journal 2004;117(9):1418-1421
- CountryChina
- Language:English
-
Abstract:
BACKGROUNDCorneal dystrophy is a group of inherited blinding diseases of the cornea. This study was to identify the mutations of the keratoepithelin (KE) gene for proper diagnosis of corneal dystrophy.
METHODSThree families with corneal dystrophy were analysed. Thirteen individuals at risk for corneal dystrophy in family A, the proband and her son in family B, and the proband in family C were examined after their blood samples were obtained. Mutation screening of human transforming growth factor beta-induced gene (BIGH3 gene) was performed.
RESULTSFive individuals in family A were found by clinical evaluation to be affected with granular corneal dystrophy and carried the BIGH3 mutation W555R. However, both probands in families B and C, also diagnosed with granular corneal dystrophy, harboured the BIGH3 mutation R124H.
CONCLUSIONMolecular genetic analysis can improve accurate diagnosis of corneal dystrophy.
