A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

Détails

ID Serval
serval:BIB_00601AB738A7
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
Périodique
Nature Genetics
Auteur(s)
Stone  E. M., Lotery  A. J., Munier  F. L., Heon  E., Piguet  B., Guymer  R. H., Vandenburgh  K., Cousin  P., Nishimura  D., Swiderski  R. E., Silvestri  G., Mackey  D. A., Hageman  G. S., Bird  A. C., Sheffield  V. C., Schorderet  D. F.
ISSN
1061-4036 (Print)
Statut éditorial
Publié
Date de publication
06/1999
Volume
22
Numéro
2
Pages
199-202
Notes
Journal Article
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.
Mots-clé
Aging Amino Acid Substitution Animals Chromosome Mapping Chromosomes, Artificial, Yeast *Chromosomes, Human, Pair 2 Corneal Dystrophies, Hereditary/*genetics/physiopathology Extracellular Matrix Proteins/*genetics Female Fluorescein Angiography Gene Expression Regulation Humans Male Mice Pigment Epithelium of Eye/pathology *Point Mutation Retinal Drusen/*genetics/physiopathology Transcription, Genetic
Pubmed
Web of science
Création de la notice
28/01/2008 13:58
Dernière modification de la notice
03/03/2018 13:11
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