[TGFBI gene mutation analysis in a Chinese family with Thiel-Behnke corneal dystrophy].
OBJECTIVE
To identify the gene mutation in autosomal dominant Thiel-Behnke corneal dystrophy affecting a five-generation Chinese family. To study the TGFBI gene mutation in Chinese patients with Thiel-Behnke corneal dystrophy by molecular genetic analysis.


METHODS
Ophthalmologic examinations were performed in 10 patients and two normal family members in an autosomal dominant Thiel-Behnke corneal dystrophy family. Five ml peripheral blood was collected and Genomic DNA was extracted using salt fractionation. The exons 4, 7, 8, 11 and 12 of the TGFBI gene were amplified by PCR and mutation analysis was performed by direct sequencing.


RESULTS
Mutation analysis of the exons 4, 7, 8, 11 and 12 of the TGFBI gene identified a G-->A missense mutation in the exon 12 by bidirectional sequencing. This mutation resulted in a substitution of glutamine for arginine at amino acid 555 (R555Q) of the protein. This mutation existed in all of the patients, but not in unaffected individuals.


CONCLUSIONS
Thiel-Behnke corneal dystrophy in this family is caused by R555Q mutation of the TGFBI gene, the phenotypes of this corneal dystrophy are closely correlated with TGFBI mutation.
Qi
Yan-hua
YH
Department of Ophthalmology, the Second Affiliated Hospital, Harbin Medical University, Harbin 150086, China. qyh64@hotmail.com
He
Hong-dan
HD
Li
Ying
Y
Wang
Li
L
Lin
Hui
H
Su
Hong
H
Gu
Jing-zhi
JZ
Huang
Shang-zhi
SZ
D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D002648:Child; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D016212:Transforming Growth Factor beta / Q000235:genetics*; D055815:Young Adult
D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta