Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene

Ophthalmology

Volumn 108, Issue 4, 2001, Pages 818-823

  Dighiero, Paul ^a   Niel, Florence ^b   Ellies, Pierre ^a   D'Hermies, François ^a   Savoldelli, Michèle ^a   Renard, Gilles ^a   Delpech, Marc ^b   Valleix, Sophie ^b  

^a HÔTEL DIEU   (France)

^b Lab de Biochim et Genet Molec   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL ULTRASTRUCTURE; CORNEA DYSTROPHY; CORNEA EPITHELIUM; DNA DETERMINATION; GENE MUTATION; GENOTYPE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; MOLECULAR GENETICS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; GENOTYPE; HUMANS; KERATOPLASTY, PENETRATING; MUTATION; NEOPLASM PROTEINS; PHENOTYPE; POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDIES; TRANSFORMING GROWTH FACTOR BETA;

EID: 0035084939     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-6420(00)00662-X     Document Type: Article

References (23)

1. Advances in the molecular genetics of corneal dystrophies
2. A new clinical perspective of corneal dystrophies through molecular genetics
3. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
4. A kerato-epithelin (βig-h3) mutation in lattice corneal dystrophy type IIIA
5. A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy
6. Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 gene
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. On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies
9. Immunolocalization of βig-h3 protein in 5q31-linked corneal dystrophies and normal corneas
10. A mutation within exon 14 of the TGFBI (BIG-H3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy
11. A new mutation (A546T) of the βig-h3 gene responsible for a French lattice corneal dystrophy type IIIA
12. A novel variant of granular corneal dystrophy caused by association of two mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126
13. Clinical and histopathologic features of corneal dystrophies in Japan
14. Reevaluation of corneal dystrophies of Bowman's layer and the anterior stroma (Reis-Bücklers and Thiel-Behnke types): A light and electron microscopic study of eight corneas and a review of the literature
15. Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits. A study of these families
16. Avellino corneal dystrophy. Clinical manifestations and natural history
17. Severe corneal dystrophy phenotype caused by homozygous R124H kerato-epithelin mutations
18. Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene
19. Homozygotic patient with βig-h3 gene mutation in granular dystrophy
20. A new L527R mutation of the βIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities
21. Heterogeneity in granular corneal dystrophy: Identification of three causative mutations in the TGFBI (BIGH3) gene - Lessons for corneal amyloidogenesis
22. Leu518Pro mutation of the βig-h3 gene causes lattice corneal dystrophy type I
23. Superficial juvenile granular dystrophy