Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophy.
OBJECTIVE
To analyze transforming growth factor beta-induced (TGFBI) gene mutations in 2 Chinese families with Thiel-Behnke corneal dystrophy (TBCD).


METHODS
Forty-five individuals in 2 Chinese families with TBCD were examined using slitlamp biomicroscopy. Genomic DNA was extracted from peripheral leukocytes of affected and unaffected family members. Molecular genetic analysis of the TGFBI gene was performed using polymerase chain reaction and standard automated sequencing methods.


RESULTS
In 17 family members with TBCD, an Arg124Cys (R124C) mutation of the TGFBI gene was identified, whereas the Arg555Gln (R555Q) mutation was absent. The Arg124Cys mutation was absent in all unaffected individuals.


CONCLUSIONS
The Arg124Cys mutation was associated with TBCD in 2 Chinese families. This mutation in the TGFBI gene may induce different phenotypes of corneal dystrophy. Clinical Relevance Thiel-Behnke corneal dystrophy may be caused by an Arg124Cys mutation of the TGFBI gene.
Beijing TongRen Ophthalmic Center, Beijing Institute of Ophthalmology, Capital University of Medical Sciences, Beijing, China.
Liu
L
Chang
Wang
W
Zhiqun
Deng
D
Shijing
Zhang
Z
Chen
Liang
L
Qingfeng
Li
L
Li
Sun
S
Xuguang
D000328:Adult; D044466:Asian People / Q000235:genetics; D050541:Bowman Membrane / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein