title: Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.
abstract: 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.
authors.affiliation: Institut de Recherche en Ophtalmologie, Sion, Switzerland. daniel.schorderet@irovision.ch
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Schorderet
authors.forename: Leila
authors.initials: L
authors.lastname: Tiab
authors.forename: Marie-Claire
authors.initials: MC
authors.lastname: Gaillard
authors.forename: Birgit
authors.initials: B
authors.lastname: Lorenz
authors.forename: Georges
authors.initials: G
authors.lastname: Klainguti
authors.forename: John B
authors.initials: JB
authors.lastname: Kerrison
authors.forename: Elias I
authors.initials: EI
authors.lastname: Traboulsi
authors.forename: Francis L
authors.initials: FL
authors.lastname: Munier
mesh_terms: D002874:Chromosome Mapping; D003598:Cytoskeletal Proteins / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D020417:Nystagmus, Congenital / Q000235:genetics*
chemical_list: D003598:Cytoskeletal Proteins; C516168:FRMD7 protein, human; D008565:Membrane Proteins