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Novel mutations in FRMD7 in X‐linked congenital nystagmus
Author(s) -
Schorderet Daniel F.,
Tiab Leila,
Gaillard MarieClaire,
Lorenz Birgit,
Klainguti Georges,
Kerrison John B.,
Traboulsi Elias I.,
Munier Francis L.
Publication year - 2007
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9492
Subject(s) - nystagmus , biology , gene , genetics , mutation , x chromosome , eye movement , medicine , neuroscience , audiology
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. © 2007 Wiley‐Liss, Inc.