TY - JOUR
T1 - Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome
AU - Belloso, Jose M.
AU - Bache, Iben
AU - Guitart, Miriam
AU - Caballin, Maria Rosa
AU - Halgren, Christina
AU - Kirchhoff, Maria
AU - Ropers, Hans Hilger
AU - Tommerup, Niels
AU - Tümer, Zeynep
PY - 2007/6/1
Y1 - 2007/6/1
N2 - 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.
AB - 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.
U2 - https://doi.org/10.1038/sj.ejhg.5201824
DO - https://doi.org/10.1038/sj.ejhg.5201824
M3 - Article
SN - 1018-4813
VL - 15
SP - 711
EP - 713
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
ER -