[TGFBI gene mutations in three Chinese families with autosomal dominant corneal dystrophy].
OBJECTIVE
To screen the transforming growth factor, beta-induced (TGFBI) gene mutation in three Chinese families with autosomal dominant corneal dystrophy.


METHODS
Analysis of the TGFBI gene mutations was performed by direct sequencing of the whole coding regions and exon-intron boundaries of the TGFBI gene in all affected members from the three families.


RESULTS
Three kinds of TGFBI gene mutations, R124C and H626R were detected in the patients of the two lattice conneal dystrophy families, and R124H was detected in the Avellino corneal dystrophy family.


CONCLUSIONS
TGFBI gene mutations are the underlying molecular mechanism of the pathogenesis for corneal dystrophy. The R124 and H626 are the hot spots of TGFBI gene mutation in this disease.
Wang
Li-ming
LM
The Ophthalmic College of Tianjin Medical University, Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin, 300020, People's Republic of China.
Wang
Yu-chuan
YC
Qiu
De-lai
DL
Ying
Ming
M
Li
Ning-dong
ND
D044466:Asian People / Q000235:genetics; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D003319:Corneal Stroma / Q000473:pathology; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D015291:Transforming Growth Factors / Q000235:genetics*
D015291:Transforming Growth Factors