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...

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Published inHuman mutation Vol. 28; no. 5; p. 525
Main Authors Schorderet, Daniel F, Tiab, Leila, Gaillard, Marie-Claire, Lorenz, Birgit, Klainguti, Georges, Kerrison, John B, Traboulsi, Elias I, Munier, Francis L
Format Journal Article
LanguageEnglish
Published United States 01.05.2007
Subjects
Chromosome Mapping
Cytoskeletal Proteins - genetics
Genetic Diseases, X-Linked - genetics
Humans
Membrane Proteins - genetics
Mutation
Nystagmus, Congenital - genetics
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Summary: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.
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ISSN:1098-1004
DOI:10.1002/humu.9492