Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome

Eur J Hum Genet. 2011 Jun;19(6):634-9. doi: 10.1038/ejhg.2010.238. Epub 2011 Mar 9.

Abstract

Gilles de la Tourette syndrome is a complex neuropsychiatric disorder with a strong genetic basis. We identified a male patient with Tourette syndrome-like tics and an apparently balanced de novo translocation [46,XY,t(2;7)(p24.2;q31)]. Further analysis using array comparative genomic hybridisation (CGH) revealed a cryptic deletion at 7q31.1-7q31.2. Breakpoints disrupting this region have been reported in one isolated and one familial case of Tourette syndrome. In our case, IMMP2L, a gene coding for a human homologue of the yeast inner mitochondrial membrane peptidase subunit 2, was disrupted by the breakpoint on 7q31.1, with deletion of exons 1-3 of the gene. The IMMP2L gene has previously been proposed as a candidate gene for Tourette syndrome, and our case provides further evidence of its possible role in the pathogenesis. The deleted region (7q31.1-7q31.2) of 7.2 Mb of genomic DNA also encompasses numerous genes, including FOXP2, associated with verbal dyspraxia, and the CFTR gene.

Publication types

  • Case Reports

MeSH terms

  • Apraxias / genetics
  • Apraxias / physiopathology
  • Chromosome Breakpoints*
  • Chromosomes, Human, Pair 7 / genetics*
  • Chromosomes, Human, Pair 7 / ultrastructure
  • Comparative Genomic Hybridization
  • Cystic Fibrosis Transmembrane Conductance Regulator / deficiency
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • DNA / analysis*
  • Endopeptidases / genetics*
  • Endopeptidases / metabolism
  • Exons
  • Forkhead Transcription Factors / deficiency
  • Forkhead Transcription Factors / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Oligonucleotide Array Sequence Analysis
  • Pedigree
  • Sequence Deletion
  • Tics / genetics*
  • Tics / physiopathology
  • Tourette Syndrome* / genetics
  • Tourette Syndrome* / physiopathology
  • Translocation, Genetic

Substances

  • CFTR protein, human
  • FOXP2 protein, human
  • Forkhead Transcription Factors
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA
  • Endopeptidases
  • IMMP2L protein, human