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

• Published in: Molecular genetics and genomics : MGG Vol. 277; no. 1; pp. 71 - 81
• Main Authors: Petek, Erwin, Schwarzbraun, Thomas, Noor, Abdul, Patel, Megha, Nakabayashi, Kazuhiko, Choufani, Sanaa, Windpassinger, Christian, Stamenkovic, Mara, Robertson, Mary M, Aschauer, Harald N, Gurling, Hugh M. D, Kroisel, Peter M, Wagner, Klaus, Scherer, Stephen W, Vincent, John B
• Format: Journal Article
• Language: English
• Published: Germany Berlin/Heidelberg : Springer-Verlag 01.01.2007; Springer Nature B.V
• Subjects: Autistic Disorder - genetics; Autistic Disorder - metabolism; Cell Line; Chromosomes; Chromosomes, Human, Pair 7 - genetics; DNA Mutational Analysis; Endopeptidases - genetics; Endopeptidases - metabolism; Gene Duplication; Gene Expression Regulation - genetics; Genetic Predisposition to Disease; Humans; Hybridomas; Mutation; Quantitative Trait Loci; Tourette syndrome; Tourette Syndrome - genetics; Tourette Syndrome - metabolism
• ISSN: 1617-4615; 1617-4623
• DOI: 10.1007/s00438-006-0173-1

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.