Disruption of the CNTNAP2 Gene in a T(7;15) Translocation Family Without Symptoms of Gilles De La Tourette Syndrome

Overview

Journal Eur J Hum Genet

Specialty Genetics

Date 2007 Mar 30

PMID 17392702

Citations 38

Authors

Jose M Belloso

Iben Bache

Miriam Guitart

Maria Rosa Caballin

Christina Halgren

Maria Kirchhoff

Hans-Hilger Ropers

Niels Tommerup

Zeynep Tumer

Affiliations

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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.

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