Mutation hot spots in 5q31-linked corneal dystrophies.

Détails

ID Serval
serval:BIB_9006
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Mutation hot spots in 5q31-linked corneal dystrophies.
Périodique
American journal of human genetics
Auteur(s)
Korvatska E., Munier F.L., Djemaï A., Wang M.X., Frueh B., Chiou A.G., Uffer S., Ballestrazzi E., Braunstein R.E., Forster R.K., Culbertson W.W., Boman H., Zografos L., Schorderet D.F.
ISSN
0002-9297
Statut éditorial
Publié
Date de publication
1998
Peer-reviewed
Oui
Volume
62
Numéro
2
Pages
320-4
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Résumé
Mutations in the BIGH3 gene on chromosome 5q31 cause four distinct autosomal dominant diseases of the human cornea: granular (Groenouw type I), Reis-Bücklers, lattice type I, and Avellino corneal dystrophies. All four diseases are characterized by both progressive accumulation of corneal deposits and eventual loss of vision. We have identified a specific recurrent missense mutation for each type of dystrophy, in 10 independently ascertained families. Genotype analysis with microsatellite markers surrounding the BIGH3 locus was performed in these 10 families and in 5 families reported previously. The affected haplotype could be determined in 10 of the 15 families and was different in each family. These data indicate that R555W, R124C, and R124H mutations occurred independently in several ethnic groups and that these mutations do not reflect a putative founder effect. Furthermore, this study confirms the specific importance of the R124 and R555 amino acids in the pathogenesis of autosomal dominant corneal dystrophies linked to 5q.
Mots-clé
Chromosome Mapping, Chromosomes, Human, Pair 5, Corneal Dystrophies, Hereditary, Exons, Genes, Dominant, Genetic Markers, Haplotypes, Humans, Introns, Linkage (Genetics), Point Mutation, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational
Pubmed
Web of science
Open Access
Oui
Création de la notice
19/11/2007 13:47
Dernière modification de la notice
20/08/2019 15:53
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