Six different mutations of TGFBI (βig-h3, keratoepithelin) gene found in Japanese corneal dystrophies

Cornea

Volumn 19, Issue 6, 2000, Pages 842-845

  Fujiki, Keiko ^a   Hotta, Yoshihiro ^a   Nakayasu, Kiyoo ^a   Yamaguchi, Tatsuo ^b   Kato, Takuji ^a   Uesugi, Yuko ^a   Ha, Nguyen T ^a   Endo, Shinichiro ^c   Ishida, Nobuo ^c   Lu, Wen Nan ^a   Kanai, Atsushi ^a  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b ST LUKE'S INTERNATIONAL HOSPITAL   (Japan)

^c Ishida Eye Clinic   (Japan)

Author keywords

Avellino corneal dystrophy; Granular corneal dystrophy; Keratoepithelin; Lattice corneal dystrophy; Reis Bucklers corneal dystrophy; TGFBI ( ig h3) gene

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA;

ARTICLE; CHROMOSOME MAP; CODON; CONTROLLED STUDY; CORNEA DYSTROPHY; GENE AMPLIFICATION; GENE MUTATION; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

CODON; CORNEAL DYSTROPHIES, HEREDITARY; DNA; DNA PROBES; EPITHELIUM, CORNEAL; EXTRACELLULAR MATRIX PROTEINS; GENETIC MARKERS; HUMANS; JAPAN; MUTATION, MISSENSE; NEOPLASM PROTEINS; POLYMERASE CHAIN REACTION; TRANSFORMING GROWTH FACTOR BETA;

EID: 0033768208     PISSN: 02773740     EISSN: None     Source Type: Journal    
DOI: 10.1097/00003226-200011000-00015     Document Type: Article

References (23)

1. Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits. A study of three families
2. Keratoconus and bilateral lattice-granular corneal dystrophies
3. Avellino corneal dystrophy. Clinical manifestations and natural history
4. Three autosomal dominant corneal dystrophies map to chromosome 5q
5. Reevaluation of corneal dystrophies of Bowman's layer and the anterior stroma (Reis-Bucklers and Thiel-Behnke types): A light and electron microscopic study of eight corneas and a review of the literature
6. Mapping of Reis-Bucklers' corneal dystrophy to chromosome 5q
7. cDNA cloning and sequence analysis of βig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-β
8. cDNA from human ocular ciliary epithelium homologous to βig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium
9. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
10. Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy
11. A kerato-epithelin (βig-h3) mutation in lattice corneal dystrophy type IIIA
12. Homozygotic patient with βig-h3 gene mutation in granular dystrophy
13. Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene
14. A new L527R mutation of the βig-h3 gene in patients with lattice corneal dystrophy with deep stromal opacities
15. The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients
16. Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy
17. Arg124Cys mutation of the βig-h3 gene in a Japanese family with lattice corneal dystrophy type I
18. Leu518Pro mutation of the βig-h3 gene causes lattice corneal dystrophy type I
19. A general method for isolation of high molecular weight DNA from eukaryotes
20. DNA sequencing with chain-terminating inhibitors
21. Fluorescence detection in automated DNA sequence analysis
22. Phenotype variation in combined granular-lattice (Avellino) corneal dystrophy
23. A mutation within exon 14 of the TGFBI (BIGH3) gene of chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy