An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene

Journal of the Formosan Medical Association

Volumn 102, Issue 2, 2003, Pages 117-120

  Hou, Yu Chih ^a   Hu, Fung Rong ^a   Chen, Muh Shy ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Corneal dystrophies; Exons; Hereditary; Mutation

Indexed keywords

AMINO ACID; PROTEIN BIGH3; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CAUCASIAN; CLINICAL FEATURE; CORNEA DYSTROPHY; CORNEA EROSION; CORNEA OPACITY; ETHNIC GROUP; EYE PAIN; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; JAPAN; PATHOGENESIS; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; VISUAL IMPAIRMENT;

CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; MIDDLE AGED; MUTATION; NEOPLASM PROTEINS; TRANSFORMING GROWTH FACTOR BETA;

EID: 0038642641     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

1. Groenouw A: Knötchenförmige Hornhauttübungen (Noduli corneae). Aechiv Augenheilkd 1890;21:281-9.
2. Eiberg H, Moller HU, Berendt I, et al: Assignment of granular corneal dystrophy Groenouw type I (CDGG1) to chromosome 5q. Eur J Hum Genet 1994:2:132-8.
3. Folberg R, Alfonso E, Croxatto JO, et al: Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits: a study of three families. Ophthalmology 1988;95: 46-51.
4. Small KW, Mullen L, Barletta J, et al: Mapping of Reis-Bücklers corneal dystrophy to chromosome 5q. Am J Opthalmol 1966: 121:384-90.
5. Stone EM, Mathers WD, Rosenwasser GOD, et al: Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet 1994;6:47-51.
6. Skonier J, Neubauer M, Madisen L, et al: 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.
7. Munier FL, Korvatska E, Djemai A, et al: Kerato-epithelin mutations if four 5q31-linked corneal dystrophies. Nat Genet 1997;15:247-51.
8. Okada M, Yamamoto S, Inoue Y, et al: Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations. Invest Ophthalmol Vis Sci 1998;39:1947-53.
9. Hongyo T, Buzard GS, Calvert RJ, et al: "Cold SSCP": a simple, rapid and non-radioactive method for optimized single-strand conformation polymorphism analyses. Nucleic Acids Res 1993; 21:3637-42.
10. Møller HU: Inter-familial variability and intra-familial similarities of granular corneal dystrophy Groenouw type 1 with respect to biomicroscopical appearance and symptomatology. Acta Ophthalmol (Copenh) 1989;67:669-77.
11. Bron AJ: The corneal dystrophies. Curr Opin Ophthalmol 1990; 1:333-46.
12. Ferry AP, Benson WH, Weiberg RS: 1997. Combined granular-lattice ("Avellino") corneal dystrophy. Trans Am Ophthalmol Soc 1997;95:61-77.
13. Folberg R, Stone EM, Sheffield VC, et al: The relationship between granular, latice type I and Avelino corneal dystrophies. A histopathologic study. Arch Ophthalmol 1994; 112:1080-5.
14. Haddad R, Font RL, Fine BS: Unusual superficial variant of granular dystrophy of the cornea. Am J Ophthalmol 1997;83:213-8.
15. Okada M, Yamamoto S, Tsujikawa M, et al. Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy. Am J Ophthalmol 1998; 126:535-42.
16. Mashima Y, Nakamura Y, Noda K, et al: A novel mutations at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. Arch Ophthalmol 1999;117:90-93.
17. Stewart HS, Ridgway AE, Dixon MJ, et al. Heterogneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis. Human Mutat 1999;14;126-32.
18. Dighiero P, Drunat S, Ellies P, et al: A new mutation (A546T) of the big-h3 gene responsible for a French lattice corneal dystrophy type IIIA. Am J Ophthalmol 2000;129:248-51.