Disruption of the CNTNAP2 gene in a t(7;15) translocation family without 
symptoms of Gilles de la Tourette syndrome

Belloso, Jose M; Bache, Iben; Guitart, Miriam; Caballin, Maria Rosa; Halgren, Christina; Kirchhoff, Maria; Ropers, Hans-Hilger; Tommerup, Niels; Tümer, Zeynep

doi::10.1038/sj.ejhg.5201824

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Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome

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Ropers, Hans-Hilger
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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引用

Belloso, J. M., Bache, I., Guitart, M., Caballin, M. R., Halgren, C., Kirchhoff, M., Ropers, H.-H., Tommerup, N., & Tümer, Z. (2007). Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. European Journal og Human Genetics: EJHG; the Official Journal of the European Society of Human Genetics, 15(6), 711-713. doi:10.1038/sj.ejhg.5201824.

引用: https://hdl.handle.net/11858/00-001M-0000-0010-8215-D

要旨

Caspr2 is a member of neurexin superfamily, members of which are transmembrane proteins that mediate cellular interactions in the nervous system. Recently, truncation of the CNTNAP2 gene coding for the Caspr2 protein has been suggested to be associated with the Gilles de la Tourette syndrome, a neurological disorder characterized by motor and vocal tics, and behavioral anomalies. In this study, we describe a familial balanced reciprocal translocation t(7;15)(q35;q26.1) in phenotypically normal individuals. The 7q35 breakpoint disrupts the CNTNAP2 gene, indicating that truncation of this gene does not necessarily lead to the symptoms of the complex Gilles de la Tourette syndrome.