Titre du document / Document title

A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I

Auteur(s) / Author(s)

WARREN John F. ⁽¹⁾ ; ABBOTT Richard L. ⁽¹⁾ ; YOON Michael K. ⁽¹⁾ ; CRAWFORD J. Brooks ⁽¹⁾ ; SPENCER William H. ⁽²⁾ ; MARGOLIS Todd P. ⁽¹⁾ ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

⁽¹⁾ Francis I. Proctor Foundation and the Department of Ophthalmology, University of California, San Francisco, San Francisco, California, ETATS-UNIS
⁽²⁾ Department of Ophthalmology, California Pacific Medical Center, San Francisco, California, ETATS-UNIS

Résumé / Abstract

○ PURPOSE: To describe an American family with lattice corneal dystrophy type I, which associates with a novel mutation, Leu569Arg, of the TGFBI (BIGH3) gene. ○ DESIGN: Experimental study. ○ METHODS: Genomic DNA was extracted from buccal epithelial cells of four affected members of an American family with lattice corneal dystrophy type I. All 17 exons of the TQFBI gene were evaluated by PCR amplification and direct sequencing. Clinical and histologic data were also collected. ○ RESULTS: Three generations of this family have been positively diagnosed with lattice corneal dystrophy, indicating autosomal dominant inheritance. We identified a heterozygous point mutation that associates with the disease phenotype. The single base-pair substitution (T1753G) results in an amino acid substitution (Leu569Arg) in exon 13 of the TQFBI gene. ○ CONCLUSIONS: Substitution of arginine for leucine at position 569 of the TQFBI gene results in a form of lattice corneal dystrophy that is phenotypically similar to other genetically distinct forms of type I disease. This is the first report of disease correlated with changes in exon 13 of the TGFBI gene.

Revue / Journal Title

American journal of ophthalmology   ISSN 0002-9394   CODEN AJOPAA 

Source / Source

2003, vol. 136, n^o5, pp. 872-878 [7 page(s) (article)] (27 ref.)

Langue / Language

Anglais

Editeur / Publisher

Elsevier, New York, NY, ETATS-UNIS  (1884) (Revue)

Mots-clés anglais / English Keywords

Keratopathy ; Eye disease ; American ; Human ; Family study ; Genetic determinism ; Gene ; Mutation ; Lattice corneal dystrophy ;

Mots-clés français / French Keywords

Kératopathie ; Oeil pathologie ; Américain ; Homme ; Etude familiale ; Déterminisme génétique ; Gène ; Mutation ; Dystrophie cornéenne grillagée ;

Mots-clés espagnols / Spanish Keywords

Queratopatía ; Ojo patología ; Americano ; Hombre ; Estudio familiar ; Determinismo genético ; Gen ; Mutación ; Distrofia corneal reticulada ;

Localisation / Location

INIST-CNRS, Cote INIST : 2012, 35400011864619.0120