Analysis of human transforming growth factor beta-induced gene mutation in corneal dystrophy.
BACKGROUND
Corneal 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.


METHODS
Three 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.


RESULTS
Five 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.


CONCLUSIONS
Molecular genetic analysis can improve accurate diagnosis of corneal dystrophy.
Li
Yang
Y
Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Sciences, Beijing 100730, China. yangli64@hotmail.com
Sun
Xu-guang
XG
Ren
Hui-yuan
HY
Dong
Bing
B
Wang
Zhi-qun
ZQ
Sun
Xiu-ying
XY
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein