BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies

Investigative Ophthalmology and Visual Science

Volumn 41, Issue 6, 2000, Pages 1302-1308

  Schmitt Bernard, Clair Florent ^a   Guittard, Caroline ^b   Arnaud, Bernard ^b   Demaille, Jacques ^b   Argiles, Angel ^b   Claustres, Mireille ^b   Tuffery Giraud, Sylvie ^b  

^a Institute of Biology   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CLINICAL ARTICLE; CORNEA DISEASE; CORNEA DYSTROPHY; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; GENOME; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASM PROTEINS; PEDIGREE; POLYMORPHISM, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; TRANSFORMING GROWTH FACTOR BETA;

EID: 0034016051     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (33)

1. Fujiki K, Hotta Y, Nakayasu K, et al. A new L527R mutation of the beta igh3 gene in patients with lattice corneal dystrophy with deep stromal opacities. Hum Genet. 1998;103:286-289.
2. Klintwoth GK, Valnickova Z, Enghild JJ. Accumulation of beta ig-h3 gene product in corneas with granular dystrophy. Am J Pathol. 1988;152:743-748.
3. Streeten BW, Qi Y, Klintworth GK, Eagle RC Jr, Strauss JA, Bennett K. Immunolocalization of βig-h3 protein in 5q31-linked corneal dystrophies and normal corneas. Arch Ophthalmol. 1999;117:67-75.
4. Hida T, Proia AD, Kigasawa K, et al. Histopathologic and immunochemical features of lattice corneal dystrophy type III. Am J Ophthalmol 1987;104:249-254.
5. Stock EL, Feder RS, O'Grady RB, Sugar J, Roth SI. Lattice corneal dystrophy type IIIA: clinical and histopathologic correlations. Arch Ophthalmol. 1991;109:354-358.
6. Meretoja J. Comparative histopathological and clinical findings in eyes with lattice corneal dystrophy of two different types. Ophthalmologica. 1972;165:15-37.
7. Gorevic PD, Munoz PC, Gorgone G, et al. Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II. N Engl J Med. 1991;325:1780-1785.
8. Dota A, Nishida K, Honma Y, et al. Gelatinous drop-like dystrophy is not one of the beta ig-h3-mutated corneal amyloidoses. Am J Ophthalmol. 1998;126:832-833.
9. Skonier J, Neubauer M, Madisen L, Bennett K, Plowman GD, Purchio AF. cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta. DNA Cell Biol. 1992;11:511-522.
10. Munier FL, Korvatska E, Djemai A, et al Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 1997;15:247-251.
11. Rozzo C, Fossarello M, Galleri G, et al. A common βig-h3 gene mutation (Δf540) in a large cohort of sardinian Reis-Bücklers corneal dystrophy patients (abstract). Hum Mutat. 1998;12:215-216.
12. Mashima Y, Nakamura Y, Noda K, et al. A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. Arch Ophthalmol. 1999; 117:90-93.
13. Stewart HS, Ridgway AE, Dixon MJ, Bonshek R, Parveen R, Black G. Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene: lessons for corneal amyloidogenesis. Hum Mutat. 1999;14:126-132.
14. Yamamoto S, Okada M, Tsujikawa M, et al. A kerato-epithelin (beta ig-h3) mutation in lattice corneal dystrophy type IIIA. Am J Hum Genet. 1998;62:719-722.
15. Endo S, Nguyen TH, Fujiki K, et al. Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I. Am J Ophthalmol. 1999;128:104-106.
16. Schmitt-Bernard CF, Tuffery S, Claustres M, Arnaud B, Argiles A. H626R mutation of the kerato-epithelin gene leads to intermediate I/IIIA phenotype of corneal lattice dystrophy. [ARVO Abstract]. Invest Ophthalmol Vis Sci. 1999;40(4):S468 (Abstract nr 2465).
17. Stewart H, Black GC, Donnai D, et al. A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. Ophthalmology. 1999 May;106:964-970.
18. Korvatska E, Munier FL, Djemai A, et al. Mutation hot spots in 5q31-linked corneal dystrophies. Am J Hum Genet. 1998;62:320-324.
19. Beaufrère L, Tuffery S, Hamel C, et al. The protein truncation test (PTT) as a method of detection for choroideremia mutations. Exp Eye Res. 1997;65:849-854.
20. Korvatska E, Munier FL, Zografos L, et al. Delineation of a 1-cM region on distal 5q containing the locus for corneal dystrophies Groenouw type I and lattice type I and exclusion of the candidate genes SPARC and LOX. Eur J Hum Genet. 1996;4:214-218.
21. Gyapay G, Morissette J, Vignal A, et al. The 1993-1994 Généthon human genetic linkage map. Nat Genet. 1994;7:246-339.
22. Tsujikawa M, Shimomura Y, Okada M, Yamamoto S, Tano Y, Kurahashi H. Novel polymorphisms in the beta ig-h3 gene. J Hum Genet. 1998;43:1998:214-215.
23. Zinn K, Mc Allister L, Goodman CS. Sequence analysis and neuronal expression of fasciclin I in grasshopper and Drosophila. Cell. 1988;23:577-583.
24. Glenner GG. Amyloid deposits and amyloidosis: the beta-fibrilloses (first of two parts). N Engl J Med. 1980;302:1283-1292.
25. Glenner GG. Amyloid deposits and amyloidosis: the beta-fibrilloses (second of two parts). N Engl J Med. 1980;302:1333-1343.
26. Fraser PE, McLachlan DR, Surewicz WK, et al. Conformation and fibrillogenesis of Alzheimer beta peptides with selected substitution of charged residues. J Mol Biol. 1994;244:64-73.
27. Rawe IM, Zhan Q, Burrows R, Bennett K, Cintron C. Beta-ig. Molecular cloning and in situ hybridization in corneal tissues. Invest Ophthalmol Vis Sci. 1997;38:893-900.
28. Escribano J, Hernando N, Ghosh S, Crabb J, Coca-Prados M. cDNA from human ocular ciliary epithelium homologous to βig-h3 is preferentially expressed as an extracellular protein in the corneal epithetium. J Cell Physiol. 1994;160:511-521.
29. Argilés À. β2-Microglobulin amyloidosis. Nephrology. 1996;2:373-386.
30. Soto C, Castano EM. Frangione B, Inestrosa NC. The alpha-helical to beta-strand transition in the amino-terminal fragment of the amyloid beta-peptide modulates amyloid formation. J Biol Chem. 1995;270:3063-3067.
31. Klintworth GK Lattice corneal dystrophy: an inherited variety of amyloidosis restricted to the cornea. Am J Pathol. 1967;50:371-399.
32. Waring GO III, Rodrigues MM, Laibson PR. Corneal dystrophies, I: Dystrophies of the epithelium, Bowman's layer and stroma. Surv Ophthalmol. 1978;23:71-122.
33. Gorevic PD, Rodrigues MM, Krachmer JH, Green C, Fujihara S, Glenner GG. Lack of evidence for protein AA reactivity in amyloid deposits of lattice corneal dystrophy and amyloid corneal degeneration. Am J Ophthalmol. 1984;98:216-224.