Titre
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Stone, E. M.
Auteure/Auteur
Lotery, A. J.
Auteure/Auteur
Munier, F. L.
Auteure/Auteur
Heon, E.
Auteure/Auteur
Piguet, B.
Auteure/Auteur
Guymer, R. H.
Auteure/Auteur
Vandenburgh, K.
Auteure/Auteur
Cousin, P.
Auteure/Auteur
Nishimura, D.
Auteure/Auteur
Swiderski, R. E.
Auteure/Auteur
Silvestri, G.
Auteure/Auteur
Mackey, D. A.
Auteure/Auteur
Hageman, G. S.
Auteure/Auteur
Bird, A. C.
Auteure/Auteur
Sheffield, V. C.
Auteure/Auteur
Schorderet, D. F.
Auteure/Auteur
Liens vers les personnes
Liens vers les unités
ISSN
1061-4036
Statut éditorial
Publié
Date de publication
1999-06
Volume
22
Numéro
2
Première page
199
Dernière page/numéro d’article
202
Notes
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Jun
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Jun
Résumé
Malattia Leventinese (ML) and Doyne honeycomb retinal dystrophy (DHRD) refer to two autosomal dominant diseases characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium (RPE). Both loci were mapped to chromosome 2p16-21 (refs 5,6) and this genetic interval has been subsequently narrowed. The importance of these diseases is due in large part to their close phenotypic similarity to age-related macular degeneration (AMD), a disorder with a strong genetic component that accounts for approximately 50% of registered blindness in the Western world. Just as in ML and DHRD, the early hallmark of AMD is the presence of drusen. Here we use a combination of positional and candidate gene methods to identify a single non-conservative mutation (Arg345Trp) in the gene EFEMP1 (for EGF-containing fibrillin-like extracellular matrix protein 1) in all families studied. This change was not present in 477 control individuals or in 494 patients with age-related macular degeneration. Identification of this mutation may aid in the development of an animal model for drusen, as well as in the identification of other genes involved in human macular degeneration.
Sujets
PID Serval
serval:BIB_00601AB738A7
DOI
PMID
Date de création
2008-01-28T11:58:41.513Z
Date de création dans IRIS
2025-05-20T19:27:14Z