Molecular Genetics and Genomics

, Volume 277, Issue 1, pp 71–81

Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome

  • Erwin Petek
  • Thomas Schwarzbraun
  • Abdul Noor
  • Megha Patel
  • Kazuhiko Nakabayashi
  • Sanaa Choufani
  • Christian Windpassinger
  • Mara Stamenkovic
  • Mary M. Robertson
  • Harald N. Aschauer
  • Hugh M. D. Gurling
  • Peter M. Kroisel
  • Klaus Wagner
  • Stephen W. Scherer
  • John B. Vincent
Original Paper

DOI: 10.1007/s00438-006-0173-1

Cite this article as:
Petek, E., Schwarzbraun, T., Noor, A. et al. Mol Genet Genomics (2007) 277: 71. doi:10.1007/s00438-006-0173-1

Abstract

We recently reported the disruption of the inner mitochondrial membrane peptidase 2-like (IMMP2L) gene by a chromosomal breakpoint in a patient with Gilles de la Tourette syndrome (GTS). In the present study we sought to identify genetic variation in IMMP2L, which, through alteration of protein function or level of expression might contribute to the manifestation of GTS. We screened 39 GTS patients, and, due to the localization of IMMP2L in the critical region for the autistic disorder (AD) locus on chromosome 7q (AUTS1), 95 multiplex AD families; however, no coding mutations were found in either GTS or AD patients. In addition, no parental-specific expression of IMMP2L was detected in somatic cell hybrids containing human chromosome 7 and human cell lines carrying a maternal uniparental disomy for chromosome 7 (mUPD7). Despite the fact that no deleterious mutations in IMMPL2 (other than the inverted duplication identified previously) were identified in either GTS or AD, this gene cannot be excluded as a possible rare cause of either disorder.

Keywords

Autism Tourette Chromosome 7 Inner mitochondrial peptidase 2-like 

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Erwin Petek
    • 1
  • Thomas Schwarzbraun
    • 1
  • Abdul Noor
    • 2
  • Megha Patel
    • 3
  • Kazuhiko Nakabayashi
    • 3
  • Sanaa Choufani
    • 3
  • Christian Windpassinger
    • 1
  • Mara Stamenkovic
    • 4
  • Mary M. Robertson
    • 5
  • Harald N. Aschauer
    • 4
  • Hugh M. D. Gurling
    • 5
  • Peter M. Kroisel
    • 1
  • Klaus Wagner
    • 1
  • Stephen W. Scherer
    • 3
  • John B. Vincent
    • 2
  1. 1.Institute of Medical Biology and Human GeneticsMedical University of GrazGrazAustria
  2. 2.Neurogenetics SectionCentre for Addiction and Mental HealthTorontoCanada
  3. 3.Program in Genetics and Genomic Biology, The Hospital for Sick ChildrenUniversity of TorontoTorontoCanada
  4. 4.Department of General PsychiatryUniversity Hospital for PsychiatryViennaAustria
  5. 5.Molecular Psychiatry Laboratory, Department of Psychiatry and Behavioural Sciences, Windeyer Institute for Medical SciencesRoyal Free and University College London Medical SchoolLondonUK

Personalised recommendations