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

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

Research output: Contribution to journalArticleResearchpeer-review

62 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)711-713
JournalEuropean Journal of Human Genetics
Volume15
DOIs
Publication statusPublished - 1 Jun 2007

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