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

Belloso, J. M., Bache, I., Guitart, M., Caballin, M. R., Halgren, C., Kirchhoff, M., et al. (2007). Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. European Journal og Human Genetics: EJHG; the Official Journal of the European Society of Human Genetics, 15(6), 711-713. doi:10.1038/sj.ejhg.5201824.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-8215-D Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-8216-B
Genre: Journal Article
Alternative Title : Eur J Hum Genet

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5201824a.pdf (Any fulltext), 63KB
 
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 Creators:
Belloso, Jose M, Author
Bache, Iben, Author
Guitart, Miriam, Author
Caballin, Maria Rosa, Author
Halgren, Christina, Author
Kirchhoff, Maria, Author
Ropers, Hans-Hilger1, Author           
Tommerup, Niels, Author
Tümer, Zeynep, Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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Free keywords: Caspr2, chromosome 7, CNTNAP2, cortical dysplasia-focal epilepsy syndrome, Gilles de la Tourette syndrome, translocation
 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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Language(s): eng - English
 Dates: 2007-03-28
 Publication Status: Issued
 Pages: -
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 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 333751
DOI: :10.1038/sj.ejhg.5201824
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Title: European Journal og Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics
  Alternative Title : Eur J Hum Genet
Source Genre: Journal
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Pages: - Volume / Issue: 15 (6) Sequence Number: - Start / End Page: 711 - 713 Identifier: ISSN: 1476-5438