Mutation hot spots in 5q31-linked corneal dystrophies.
Am J Hum Genet
; 62(2): 320-4, 1998 Feb.
Article
en En
| MEDLINE
| ID: mdl-9463327
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 5
/
Distrofias Hereditarias de la Córnea
/
Mutación Puntual
Límite:
Humans
Idioma:
En
Revista:
Am J Hum Genet
Año:
1998
Tipo del documento:
Article
País de afiliación:
Suiza
Pais de publicación:
Estados Unidos