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  • Original Research Article
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Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region

Molecular Psychiatry volume 7, pages 289–301 (2002)Cite this article

Abstract

Genetic studies indicate that chromosome 7q is likely to contain an autism susceptibility locus (AUTS1). We have followed a positional candidate gene approach to identify the relevant gene and report the analysis of four adjacent genes localised to a 800 kb region in 7q32 that contains an imprinted domain: PEG1/MEST, COPG2, CPA1 and CPA5—a previously uncharacterised member of the carboxypeptidase gene family. Screening these genes for DNA changes and association analysis using intragenic single nucleotide polymorphisms (SNPs) provided no evidence for an etiological role in IMGSAC families. We also searched for imprinting mutations potentially implicated in autism: analysis of both DNA methylation and replication timing indicated a normal imprinting regulation of the PEG1/COPG2 domain in blood lymphocytes of all patients tested. The analysis of these four genes strongly suggests that they do not play a major role in autism aetiology, and delineates our strategy to screen additional candidate genes in the AUTS1 locus.

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Acknowledgements

This work would not have been possible without the co-operation of both the subjects and their families and the many referring professionals. We would like to thank Zoe Docherty from Guy's Hospital for providing samples from blood lymphocytes, Pat Scudder for technical support, Janine A Lamb, Gabrielle Barnby and Anthony Bailey for helpful discussions and critical comments on the manuscript, and Lorne Lonie for assistance on DHPLC. This study is funded by support from the UK Medical Research Fund, The Wellcome Trust and Telethon, Italy (E.1007). APM is a Wellcome Trust Principal Research Fellow.

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  1. E Bonora, E Bacchelli, E R Levy, F Blasi, A Marlow, A P Monaco and E Maestrini: URL:http://www.well.ox.ac.uk/~maestrin/iat.html

Authors and Affiliations

  1. The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK

    E Bonora, E R Levy, A Marlow & A P Monaco

  2. Dipartimento di Biologia Evoluzionistica Sperimentale, University of Bologna, Bologna, Italy

    E Bacchelli, F Blasi & E Maestrini

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  1. E Bonora
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and the International Molecular Genetic Study of Autism Consortium (IMGSAC)

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Correspondence to E Maestrini.

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Bonora, E., Bacchelli, E., Levy, E. et al. Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region. Mol Psychiatry 7, 289–301 (2002). https://doi.org/10.1038/sj.mp.4001004

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