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S. P. Shankar, J. F. Fingert, M. E. Eyestone, H. T. Daggett, V. C. Sheffield, R. V. Keech, E. M. Stone; Novel FRMD7 Mutation Is Associated With X-Linked Idiopathic Congenital Nystagmus in a Large Pedigree From Iowa. Invest. Ophthalmol. Vis. Sci. 2007;48(13):1323.
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X-linked idiopathic congenital nystagmus is a condition characterized by rhythmic oscillations of the eye presenting at birth or early infancy. Linkage studies of several such families mapped a disease-causing gene to NYS1 locus on chromosome Xq26-q27. Recently reported mutations in the FRMD7 gene are associated with a significant fraction of X-linked idiopathic congenital nystagmus. We sought to evaluate the role of the FRMD7 gene in a large nystagmus pedigree from Iowa.
DNA samples were obtained from a 46 member X-linked idiopathic congenital nystagmus pedigree with nine affected male family members as well as from 57 normal male control subjects. DNA samples were tested for disease-causing mutations in the coding sequence of the FRMD7 gene using bi-directional automated DNA sequencing.
Exons 3 and 4 of the FRMD7 gene failed to amplify from the DNA of all nine affected family members consistent with the presence of an intragenic deletion. Multiplex PCR with primers for both the FRMD7 gene and a control gene on an autosomal chromosome confirmed the presence of deletion of exons 3 and 4 of the FRMD7 gene in all nine affected family members. The deletion was not detected in unaffected relatives nor in 57 male controls.
We have identified a deletion that includes at least exons 3 and 4 of the FRMD7 gene in an X-linked idiopathic congenital nystagmus pedigree. Further studies are being performed to determine the exact extent of this large intragenic deletion. Our study further confirms the recently reported association between mutations in the FRMD7 gene and X-linked idiopathic congenital nystagmus.
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