Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online

Détails

ID Serval
serval:BIB_4494122E8A70
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online
Périodique
Human Mutation
Auteur(s)
Schorderet  D. F., Tiab  L., Gaillard  M. C., Lorenz  B., Klainguti  G., Kerrison  J. B., Traboulsi  E. I., Munier  F. L.
ISSN
1098-1004 (Electronic)
Statut éditorial
Publié
Date de publication
05/2007
Volume
28
Numéro
5
Pages
525
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: May
Résumé
Congenital nystagmus is an eye movement disorder in which one or both eyes are in constant movement. It can be associated with a number of ocular or neurological diseases, or it can be inherited in an autosomal or X-linked fashion. The latter form is called idiopathic or motor nystagmus (CIN). Loci on the X chromosome (NYS1) and on 6p12 (NYS2), 7p11.2 (NYS3), and 13q31-q33 (NYS4) have been identified for CIN. The molecular characterization of NYS1 has recently been solved by Tarpey et al., who identified mutations in FRMD7, a gene of unclear function. We report five novel mutations in FRMD7 and confirm the role of this gene in the pathogenesis of X-linked congenital nystagmus.
Mots-clé
Chromosome Mapping Cytoskeletal Proteins/*genetics Genetic Diseases, X-Linked/*genetics Humans Membrane Proteins/*genetics *Mutation Nystagmus, Congenital/*genetics
Pubmed
Création de la notice
28/01/2008 12:58
Dernière modification de la notice
20/08/2019 13:49
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