Abstract
Gilles de la Tourette syndrome (GTS) is a common, heritable neurological disorder manifested by chronic motor and vocal tics with childhood onset. Previous extensive linkage analysis failed to identify a GTS gene based on an autosomal dominant pattern of inheritance. Recently, a family was reported with a balanced chromosomal translocation t(1;8)(q21.1;q22.1) in family members with GTS or tics. Chromosome 8q22.1 was previously implicated in GTS by both association and linkage results. We therefore cloned and sequenced both translocation breakpoints from this family. The CBFA2T1 gene was identified 11 kb distal to the 8q22.1 breakpoint. Sequencing of CBFA2TI exons within 37 unrelated GTS patients failed to identify any mutations. However, it is possible that the translocation altered the expression of this gene or another nearby gene. Examination of the breakpoint sequences revealed a duplication of six nucleotides from chromosome 8 but no change in the chromosome 1 sequence. The sequences immediately flanking the breakpoints on the two chromosomes were modestly similar, but the breakpoints did not occur within known interspersed repeats. Our results add to our knowledge of the genetics of GTS and the mechanisms of balanced chromosomal translocations.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Matsumoto, N., David, D., Johnson, E. et al. Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome. Eur J Hum Genet 8, 875–883 (2000). https://doi.org/10.1038/sj.ejhg.5200549
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.ejhg.5200549
Keywords
This article is cited by
-
Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature
neurogenetics (2013)
-
The genetics of Tourette syndrome
Nature Reviews Neurology (2012)
-
Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism
Translational Psychiatry (2012)
-
Genetic and clinical analysis of a large Dutch Gilles de la Tourette family
Molecular Psychiatry (2006)
-
Translocation breakpoint in two unrelated Tourette syndrome cases, within a region previously linked to the disorder
Human Genetics (2003)