A novel mutation of the TGFBI gene found in a Vietnamese family with atypical Granular Corneal Dystrophy

Japanese Journal of Ophthalmology

Volumn 47, Issue 3, 2003, Pages 246-248

  Ha, Nguyen Thanh ^a   Cung, Le Xuan ^a,b   Chau, Hoang Minh ^b   Thanh, Ton Kim ^b   Fujiki, Keiko ^a   Murakami, Akira ^a   Kanai, Atsushi ^a  

^a JUNTENDO UNIVERSITY   (Japan)

^b National Institute of Ophthalmology   (Viet Nam)

Author keywords

Granular corneal dystrophy; Human transforming growth factor beta induced gene; Low penetrance; Novel mutation; Vietnamese

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA;

ADULT; ARTICLE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; CORNEA DYSTROPHY; CORNEA OPACITY; DNA DETERMINATION; DNA EXTRACTION; FAMILIAL DISEASE; GENE MUTATION; GENE SEQUENCE; HUMAN; LEUKOCYTE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0038777119     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-5155(03)00019-4     Document Type: Article

References (6)

1. Moller H.U. Inter-familial variability and intra-familial similarities of granular corneal dystrophy Groenouw type I with respect to biomicroscopic appearance and symptomatology. Acta Ophthalmol. 67:1989;669-677.
2. Skonier J., Neubauer M., Madisen L., et al. cDNA cloning and sequence analysis of β ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-β DNA Cell Biol. 11:1992;511-522.
3. Munier F.L., Korvatska E., Djemai A., et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 15:1997;247-251.
4. Fujiki K., Hotta Y., Nakayasu K., et al. Six different mutations of TGFBI (BIGH3, Keratoepithelin) gene found in Japanese corneal dystrophies. Cornea. 19:2000;842-845.
5. Dighiero P., Drunat S., D'Hermies F., et al. A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene: R124L and Δ ΔT125-ΔE126. Arch Ophthalmol. 118:2000;814-818.
6. Ha N.T., Fujiki K., Hotta Y., et al. Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy. Am J Ophthalmol. 130:2000;119-120.