Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.
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.
Schorderet
Daniel F
DF
Institut de Recherche en Ophtalmologie, Sion, Switzerland. daniel.schorderet@irovision.ch
Tiab
Leila
L
Gaillard
Marie-Claire
MC
Lorenz
Birgit
B
Klainguti
Georges
G
Kerrison
John B
JB
Traboulsi
Elias I
EI
Munier
Francis L
FL
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*
D003598:Cytoskeletal Proteins; C516168:FRMD7 protein, human; D008565:Membrane Proteins