Abstract
Asperger syndrome (AS) is a mild form of autistic disorder characterised by impairment in social interaction as well as a restricted pattern of behaviour, interests, and activities. Two patients with AS and balanced translocations t(13;17) and t(17;19), respectively, were identified. Fluorescent in situ hybridisation (FISH) analysis with chromosome 17 specific clones to metaphase chromosomes from both patients showed that the chromosome 17 breakpoints are located within a 300 kb region at 17p13. The region spans 14 known genes. The expression of these genes was analysed in lymphoblastoid RNA derived from the patients and healthy control individuals. The CHRNE, DKFZP566H073, LOC90048, PFN1, SPAG7, KIAA0909, ZNF232 and KIF1C genes showed similar levels of expression in cell lines with the translocations when compared with cell lines with normal karyotype. No expression was detected for the MINK, GP1BA, SLC25A11, ENO3, FLJ10060 and USP6 genes in any of the cell lines. The close physical relation of the two 17p breakpoints suggest a common genetic aetiology for the phenotype in the patients. Structural and functional analysis of the genes located around the two 17p breakpoints in t(13;17) and t(17;19) patients may reveal candidate sequences for the AS phenotype.
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Acknowledgements
We thank Dr Nils-Erik Heldin and Dr Taras Stasyk for advice and technical assistance. This work was supported by grants from the Swedish Medical Research Council, Childrens Cancer Foundation of Sweden, the Swedish Cancer Society, the Söderström-Königska Foundation and the Swedish Medical Society, The Sävstaholm Society, Torsten and Ragnar Söderbergs Fund, The Lundbeck Foundation, the Borgström Foundation, and The Wilhelm and Martina Lundbergs Foundation.
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Tentler, D., Johannesson, T., Johansson, M. et al. A candidate region for Asperger syndrome defined by two 17p breakpoints. Eur J Hum Genet 11, 189–195 (2003). https://doi.org/10.1038/sj.ejhg.5200939
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DOI: https://doi.org/10.1038/sj.ejhg.5200939
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