Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome |
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| Authors: | 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 |
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| Institution: | (1) Institute of Medical Biology and Human Genetics, Medical University of Graz, Harrachgasse 21/8, 8010 Graz, Austria;(2) Neurogenetics Section, Centre for Addiction and Mental Health, 250 College Street, M5T 1R8 Toronto, ON, Canada;(3) Program in Genetics and Genomic Biology, The Hospital for Sick Children, University of Toronto, Toronto, Canada;(4) Department of General Psychiatry, University Hospital for Psychiatry, Vienna, Austria;(5) Molecular Psychiatry Laboratory, Department of Psychiatry and Behavioural Sciences, Windeyer Institute for Medical Sciences, Royal Free and University College London Medical School, London, UK |
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| 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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| Keywords: | Autism Tourette Chromosome 7 Inner mitochondrial peptidase 2-like |
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