1. ¹Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
2. ²Laboratori de Genètica, UDIAT-Centre Diagnòstic, Hospital de Sabadell, Corporació Sanitària Parc Taulí, Fundació Parc Taulí Institut Universitari UAB, Sabadell, Spain
3. ³Unitat d'Antropologia, Universitat Autònoma de Barcelona, Cerdanyola, Spain
4. ⁴Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
5. ⁵Max-Planck Institute for Molecular Genetics, Berlin, Germany

Correspondence: Dr Z Tümer, Department of Cellular and Molecular Medicine, Faculty of Health Sciences, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Blegdamsvej 3, 2200 KBH N, Denmark. Tel.: +45 3532 7827; Fax: +45 3532 7845; E-mail: zeynep@imbg.ku.dk

Received 22 November 2006; Revised 10 February 2007; Accepted 14 February 2007; Published online 28 March 2007.

Abstract

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.