A new L527R mutation of the βIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities

Human Genetics

Volumn 103, Issue 3, 1998, Pages 286-289

  Fujiki, Keiko ^a,b   Hotta, Yoshihiro ^a   Nakayasu, Kiyoo ^a   Yokoyama, Toshiyuki ^a   Takano, Toshiyuki ^a   Yamaguchi, Tatsuo ^b   Kanai, Atsushi ^a  

^a JUNTENDO UNIVERSITY   (Japan)

^b ST LUKE'S INTERNATIONAL HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEOTIDE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASE PAIRING; CHROMOSOME 5Q; CODON; CONTROLLED STUDY; CORNEA DYSTROPHY; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; NORMAL HUMAN; PHENOTYPE; PRIORITY JOURNAL; RETROSPECTIVE STUDY;

AGED; CHROMOSOMES, HUMAN, PAIR 5; CORNEAL DYSTROPHIES, HEREDITARY; DIAGNOSTIC TECHNIQUES, OPHTHALMOLOGICAL; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; NEOPLASM PROTEINS; TRANSFORMING GROWTH FACTOR BETA;

EID: 0031682083     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050818     Document Type: Article

References (18)

1. Blin N, Stafford DW (1976) A general method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acids Res 3:2303-2308
2. Fujiki K, Hotta Y, Nakayasu K, Kanai A (1998) Homozygotic patient with βig-h3 gene mutation in granular dystrophy. Cornea 17:288-292
3. Gregory CY, Evans K, Bhattacharya SS (1995) Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval. J Med Genet 32:224-226
4. Hida T, Tsubota K, Kigasawa K, Murata H, Ogata T, Akiya S (1987a) Clinical features of a newly recognized type of lattice corneal dystrophy. Am J Ophthalmol 104:241-248
5. Hida T, Proia AD, Kigasawa K, Sanfilippo FP, Burchette JL, Akiya S, Klintworth GK (1987b) Histopathologic and immunochemical features of lattice corneal dystrophy type III. Am J Ophthalmol 104:249-254
6. Hotta Y, Fujiki K, Ono K, Fujimaki T, Nakayasu K, Yamaguchi T, Kanai A (1998) Arg124Cys mutation of the βig-h3 gene in a Japanese family with lattice corneal dystrophy type I. Jpn J Ophthalmol (in press)
7. Klintworth GK (1977) The cornea-structure and macromolecules in health and disease. A review. Am J Pathol 89:719-808
8. Korvatska E, Munier FL, Djemaï A, Wang MX, Frueh B, Chiou AGY, Uffer S, Ballestrazzi E, Braunstein RE, Forster RK, Culbertson WW, Boman H, Zografos L, Schorderet DF (1998) Mutation hot spots in 5q31-linked corneal dystrophies. Am J Hum Genet 62:320-324
9. Mashima Y, Tmamura Y, Konishi M, Nagasawa A, Yamada M, Oguchi Y, Kudoh J, Shimizu N (1997) Homogeneity of keratoepithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy. Am J Hum Genet 61:1448-1450
10. Munier FL, Korvatska E, Djemaï A, Paslier DL, Zografos L, Pescia G, Schorderet DF (1997) Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 15:247-251
11. Rosenwasser GOD, Sucheski BM, Rosa N, Pastena B, Sebastiani A, Sassani JW, Perry HD (1993) Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy. Arch Ophthalmol 111:1546-1552
12. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463-5467
13. Skonier J, Neubauer M, Madisen L, Bennett K, Plowman GD, Purchio AF (1992) cDNA cloning and sequence analysis of βigh3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-β. DNA Cell Biol 11:511-522
14. Small KW, Mullen L, Barletta J, Graham K, Glasgow B, Stern G, Yee R (1996) Mapping of Reis-Bücklers' corneal dystrophy to chromosome 5q. Am J Ophthalmol 121:384-390
15. Smith LM, Sanders JZ, Kaiser RJ, Hughes P, Dodd C, Connel CR, Heiner C, Kent SBH, Hood LE (1986) Fluorescence detection in automated DNA sequence analysis. Nature 321:674-679
16. Stock EL, Feder RS, O'Grady RB, Sugar J, Roth SI (1991) Lattice corneal dystrophy type IIIA. Clinical and histopathologic correlations. Arch Ophthalmol 109:354-358
17. Stone EM, Mathers WD, Rosenwasser GOD, Holland EJ, Folberg R, Krachmer JH, Nicols BE, Gorevic PD, Taylor CM, Streb LM, Fishbaugh JA, Daley TE, Sucheski BM, Sheffield VC (1994) Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet 6:47-51
18. Yamamoto S, Okada M, Tsujikawa M, Shimomura Y, Nishida K, Inoue Y, Watanabe H, Maeda N, Kurahashi H, Kinoshita S, Nakamura Y, Tano Y (1998) A kerato-epithelin (βig-h3) mutation in lattice corneal dystrophy type IIIA. Am J Hum Genet 62:719-722