[Analysis of mutation of BIGH3 gene in Chinese patients with corneal dystrophies].
OBJECTIVE
To study whether Chinese patients with various corneal dystrophy carry mutations in BIGH3 gene.


METHODS
Genomic DNA was extracted from Chinese patients with Avellino corneal dystrophy (ACD, 10 cases), Reis-Bücklers corneal dystrophy (CDRB, 2 cases), granular corneal dystrophy (GCD, 3 cases) and 5 control subjects. The exons 4 and 12 of BIGH3 gene were amplified by PCR and the product was sequenced directly.


RESULTS
All 15 patients carried mutations in BIGH3 gene, R124H in 10 cases with ACD, R124L in 2 cases with CDRB and R555W in 3 cases with GCD.


CONCLUSIONS
Corneal lesions in all 15 Chinese patients clinically diagnosed with corneal dystrophies are caused by mutations in BIGH3 gene. Dose-effect analysis shows that corneal lesions are more severe in homozygous patients than those in heterozygous cases and that clinical manifestation of patients with R124L mutation is more severe than that of patients with R124H mutation.
Yu
Jie
J
Tongren Ophthalmic Center, Capital University of Medical Science, Beijing 100730, China. shixiaojun01@sina.com
Zou
Liu-he
LH
He
Jiu-cheng
JC
Liu
Ning-pu
NP
Zhang
Wei
W
Lu
Lan
L
Sun
Xu-guang
XG
Dong
Dong-sheng
DS
Wu
Yu-ying
YY
Yin
Xiao-tang
XT
D000293:Adolescent; D000328:Adult; D003317:Corneal Dystrophies, Hereditary / Q000145:classification / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; 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