A Novel Variant Lattice Corneal Dystrophy Caused by Association of Mutation (V625D) in TGFBI Gene

American Journal of Ophthalmology

Volumn 144, Issue 3, 2007, Pages 473-475

  Tian, Xin ^a,b   Fujiki, Keiko ^b   Zhang, Yan ^c   Murakami, Akira ^b   Li, Qin ^c   Kanai, Atsushi ^b   Wang, Wei ^a   Hao, Yansheng ^a   Ma, Zhizhong ^a  

^a PEKING UNIVERSITY   (China)

^b JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c JILIN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL CORNEA DYSTROPHY; DNA DETERMINATION; DNA EXTRACTION; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; KERATECTOMY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SLIT LAMP; TGFBI GENE; VISUAL ACUITY;

CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; TRANSFORMING GROWTH FACTOR BETA; VISUAL ACUITY;

EID: 34548285301     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2007.04.015     Document Type: Article

References (6)

1. Munier F.L., Korvatska E., Djemaï A., et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 15 (1997) 247-251
2. Munier F.L., Frueh B.E., Othenin-Girard P., et al. BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci 43 (2002) 949-954
3. Dong W.L., Zou L.H., Pan Z.Q., Jin T., and Yu J. Molecular genetic study on patients with lattice corneal dystrophy in China. Zhonghua Yan Ke Za Zhi 41 (2005) 523-526
4. Tian X., Fujiki K., Wang W., et al. A novel mutation (V505D) of TGFBI gene found in a Chinese family with lattice corneal dystrophy type I. Jpn J Ophthalmol 49 (2005) 84-88
5. Escribano J., Hernando N., Ghosh S., Crabb J., and Coca-Prados M. cDNA from human ocular ciliary epithelium homologous to βig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium. J Cell Physiol 160 (1994) 511-521
6. Aldave A.J., Rayner S.A., Kim B.T., Prechanond A., and Yellore V.S. Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene. Mole Vis 12 (2006) 142-146