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

被引：57

作者：

Belloso, Jose M.

Bache, Iben

Guitart, Miriam

Caballin, Maria Rosa

Halgren, Christina

Kirchhoff, Maria

Ropers, Hans-Hilger

Tommerup, Niels

Tumer, Zeynep

机构：

[1] Univ Copenhagen, Wilhelm Johannsen Ctr Funct Genome Res, Fac Hlth Sci, Dept Cellular & Mol, DK-2200 KBH Copenhagen N, Denmark

[2] Hosp Sabadell, Corp Sanitaria Parc Tauli, UDIAT Ctr Diagnost, Lab Genet, Sabadell, Spain

[3] Univ Autonoma Barcelona, Unitat Antropol, Cerdanyola Del Valles, Spain

[4] Rigshosp, Dept Clin Genet, Copenhagen, Denmark

[5] Max Planck Inst Mol Genet, Berlin, Germany

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2007年 / 15卷 / 06期

关键词：

Caspr2; chromosome; 7; CNTNAP2; cortical dysplasia-focal epilepsy syndrome; Gilles de la Tourette syndrome; translocation;

D O I：

10.1038/sj.ejhg.5201824

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：711 / 713

页数：3

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