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.
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Website references
AGRE: http://www.agre.org
PromoterInspector: http://www.genomatix.de
PSORT: http://www.psort.ims.u-tokyo.ac.jp/cgi-bin/runpsort.pl
SOSUI: http://www.sosui.proteome.bio.tuat.ac.jp/sosuiframe0.html
Acknowledgements
This work was supported by the grant OENB#9522 from the Oesterreichische Nationalbank to E.P. (University of Graz), by Cure Autism Now Foundation (CAN), by the Canadian Disease Gene Network (CDGN), and by a National Alliance for Research on Schizophrenia and Depression Young Investigator Award to (J.V.). We gratefully acknowledge the resources provided by the AGRE consortium and the participating AGRE families. The Autism Genetic Resource Exchange (AGRE) is a program of Cure Autism Now. We also acknowledge the assistance of Dr. Neil Green (Vanderbilt University) with the manuscript. The experiments outlined in this study comply with the laws of the countries in which they were performed.
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Communicated by P. Ruiz.
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Petek, E., Schwarzbraun, T., Noor, A. et al. Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome. Mol Genet Genomics 277, 71–81 (2007). https://doi.org/10.1007/s00438-006-0173-1
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DOI: https://doi.org/10.1007/s00438-006-0173-1