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

doi:10.1038/sj.ejhg.5201824

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^*

^*Corresponding author af dette arbejde

Afdeling for Genetik

67 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	European journal of human genetics : EJHG
Vol/bind	15
Udgave nummer	6
Sider (fra-til)	711-3
Antal sider	3
ISSN	1018-4813
DOI	https://doi.org/10.1038/sj.ejhg.5201824
Status	Udgivet - jun. 2007

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10.1038/sj.ejhg.5201824

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

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.",

keywords = "Abnormalities, Multiple/genetics, Chromosomes, Human, Pair 15/genetics, Chromosomes, Human, Pair 7/genetics, Female, Humans, Male, Membrane Proteins/genetics, Nerve Tissue Proteins/genetics, Pedigree, Translocation, Genetic/genetics",

author = "Belloso, {Jose M} and Iben Bache and Miriam Guitart and Caballin, {Maria Rosa} and Christina Halgren and Maria Kirchhoff and Hans-Hilger Ropers and Niels Tommerup and Zeynep T{\"u}mer",

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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

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Y1 - 2007/6

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.

KW - Abnormalities, Multiple/genetics

KW - Chromosomes, Human, Pair 15/genetics

KW - Chromosomes, Human, Pair 7/genetics

KW - Female

KW - Humans

KW - Male

KW - Membrane Proteins/genetics

KW - Nerve Tissue Proteins/genetics

KW - Pedigree

KW - Translocation, Genetic/genetics

U2 - 10.1038/sj.ejhg.5201824

DO - 10.1038/sj.ejhg.5201824

M3 - Journal article

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SN - 1018-4813

VL - 15

SP - 711

EP - 713

JO - European journal of human genetics : EJHG

JF - European journal of human genetics : EJHG

IS - 6

ER -

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

Abstract

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