Homozygotic patient with βig-h3 gene mutation in granular dystrophy

Cornea

Volumn 17, Issue 3, 1998, Pages 288-292

  Fujiki, Keiko ^a   Hotta, Yoshihiro ^a   Nakayasu, Kiyoo ^a   Kanai, Atsushi ^a  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Granular dystrophy; Homozygote; Missense mutation; ig h3 gene

Indexed keywords

ADENINE; ARGININE; DNA; GUANINE; HISTIDINE; TRANSFORMING GROWTH FACTOR BETA; BETAIG H3 PROTEIN; BETAIG-H3 PROTEIN; SCLEROPROTEIN; TUMOR PROTEIN;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; CORNEA DYSTROPHY; DISEASE SEVERITY; EXON; FAMILY; FEMALE; GENE AMPLIFICATION; GENE INDUCTION; GENE MUTATION; HOMOZYGOTE; HUMAN; HUMAN CELL; JAPAN; KERATECTOMY; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; PEDIGREE; PRIORITY JOURNAL; ADOLESCENT; CHEMISTRY; COMPARATIVE STUDY; CONGENITAL CORNEA DYSTROPHY; DNA PROBE; FOLLOW UP; GENETICS; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PATHOLOGY; POINT MUTATION; POLYMERASE CHAIN REACTION; RECURRENT DISEASE;

ADOLESCENT; ADULT; AGED; CORNEAL DYSTROPHIES, HEREDITARY; DNA; DNA MUTATIONAL ANALYSIS; DNA PROBES; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FOLLOW-UP STUDIES; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; NEOPLASM PROTEINS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; RECURRENCE; TRANSFORMING GROWTH FACTOR BETA;

EID: 85047679031     PISSN: 02773740     EISSN: None     Source Type: Journal    
DOI: 10.1097/00003226-199805000-00009     Document Type: Article

References (20)

1. Groenouw A. Knötchenförmige Hornhauttrübungen (noduli corneae). Arch Augenheilkd 1890;21:281-9.
2. Weidle EG, Lisch W. Various forms of opacities of granular corneal dystrophy. Klin Monatsbl Augenheilkd 1984;185:167-73.
3. Jones ST, Zimmerman LE. Histopathologic differentiation of granular, macular, and lattice dystrophies of the cornea. Am J Ophthalmol 1961;51:394-410.
4. Kanai A, Yamaguchi T, Nakajima A. The histochemical and analytical electron microscopic studies of the corneal granular dystrophy. J Jpn Ophthalmol Soc 1977;81:145-54.
5. Yamaguchi T, Bando M, Kanai A, Nakajima A. Phospholipid in human cornea of the granular dystrophy. Metab Pediatr Ophthalmol 1979;3:195-9.
6. Eiberg H, Moller HU, Berendt I, Mohr J. Assignment of granular corneal dystrophy Groenouw type I (CDGG1) to chromosome 5q. Eur J Hum Genet 1994;2:132-8.
7. Stone EM, Mathers WD, Rosenwasser GO, et al. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet 1994;6:47-51.
8. Gregory CY, Evans K, Bhattacharya SS. Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval. J Med Genet 1995;32:224-6.
9. Small KW, Mullen L, Barletta J, et al. Mapping of Reis-Bücklers' corneal dystrophy to chromosome 5q. Am J Ophthalmol 1996;121: 384-90.
10. Skonier J, Neubauer M, Madisen L, Bennett K, Plowman GD, Purchio AF. 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. DNA Cell Biol 1992; 11:511-22.
11. Escribano J, Hernando N, Ghosh S, Crabb J, Coca-Prados M. cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium. J Cell Physiol 1994;160:511-21.
12. Munier FL, Korvatska E, Djemai A, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 1997;15: 247-51.
13. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 1977;74:5463-7.
14. Smith LM, Sanders JZ, Kaiser RJ, et al. Fluorescence detection in automated DNA sequence analysis. Nature 1986;321:674-9.
15. Folberg R, Alfonso E, Croxatto JO, et al. Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits: a study of these families. Ophthalmology 1988;95: 46-51.
16. Folberg R, Stone EM, Sheffield VC, Mathers WD. The relationship between granular, lattice type 1, and Avellino corneal dystrophies: a histopathologic study. Arch Ophthalmol 1994;112: 1080-5.
17. Rosenwasser GO, Sucheski BM, Rosa N, et al. Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy. Arch Ophthalmol 1993;111:1546-52.
18. Moller HU, Ridgway AE. Granular corneal dystrophy Groenouw type I: a report of a probable homozygous patient. Acta Ophthalmol (Copenh) 1990;68:97-101.
19. Kanai A, Tanaka, M, Yamaguchi T, Niwa Y, Nakajima A. Histopathological study of the granular dystrophy of the cornea. Folia Ophthalmol Jpn 1974;25:591-601.
20. Rodrigues MM, Gaster RN, Pratt MV. Unusual superficial confluent form of granular corneal dystrophy. Ophthalmology 1983;90: 1507-11.