[Molecular genetic study on patients with lattice corneal dystrophy in China].
OBJECTIVE
To investigate the mutations of the BIGH3 gene in patients with lattice corneal dystrophy in China.


METHODS
Molecular genetic analysis was performed on DNA extracted from peripheral leukocytes from eight patients with lattice corneal dystrophy and without systemic amyloidosis in Tongren Ophthalmic Center. Exons 4, 12, 14 of the BIGH3 gene were amplified by polymerase chain reaction and were sequenced directly. The cornea of these patients were examined with slit lamp biomicroscope and photographed. At the same time, 32 normal subjects were recruited in the molecular genetic analysis as the controls.


RESULTS
Three LCDI patients had R124C mutation (one missense mutation at position 417 C-->G of exon 4) in the BIGH3 gene, all of them were heterozygous. The other five patients showed different H626R mutations at position 1924 from A to G of the BIGH3 gene in exon 14, all of them were heterozygous too. The clinical appearance in patients with H626R mutation was an intermediate type between LCDI and LCDIII or LCDIIIA.


CONCLUSIONS
R124C mutation and H626R mutation are detected in Chinese patients with lattice corneal dystrophy. It seems that H626R mutation not only presents in British and French patients, but also can be found in Asia patients.
Dong
Wei-li
WL
Tongren Ophthalmic Center, Capital University of Medical Sciences, Beijing 100730, China.
Zou
Liu-he
LH
Pan
Zhi-qiang
ZQ
Jin
Tao
T
Yu
Jie
J
D000328:Adult; D044466:Asian People / Q000235:genetics; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008967:Molecular Biology; D020125:Mutation, Missense; D010375:Pedigree; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein