Abstract
Genetic studies have provided evidence for an autism susceptibility locus (AUTS1) on chromosome 7q. Screening for mutations in six genes mapping to 7q, CUTL1, SRPK2, SYPL, LAMB1, NRCAM and PTPRZ1 in 48 unrelated individuals with autism led to the identification of several new coding variants in the genes CUTL1, LAMB1 and PTPRZ1. Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect for this variant. Association was also detected for several polymorphisms in the promoter and untranslated region of NRCAM, suggesting that alterations in expression of this gene may be linked to autism susceptibility.
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Acknowledgements
We thank all the families who have participated in the study and the professionals who continue to make this study possible. We would like to thank John Broxholme for help in bioinformatic analysis, Lorne Lonie, Aaron Abbott and Rebecca Redhead for technical support, Clyde Francks, Silvia Paracchini, Angela Marlow, Yvonne Jones and Robert Esnouf for helpful discussions and critical comments. This study is funded in part by support from the UK Medical Research Council, The Wellcome Trust, BIOMED 2 (CT-97-2759), EC Fifth Framework (QLG2-CT-1999-0094), Telethon – Italy (GGP030227), the Janus Korczak Foundation, Deutsche Forschungsgemeinschaft, Fondation France Télécom, Conseil Régional Midi-Pyrénées, Danish Medical Research Council, Sofiefonden, the Beatrice Surovell Haskells Fond for Child Mental Health Research of Copenhagen, the Danish Natural Science Research Council (9802210), the National Institute of Child Health and Development (5-P01-HD-35482-02) and the National Institutes of Health (MO1 RR06022 GCRC NIH, NIH K05 MH01196, K02 MH01389). EB is funded by a University of Oxford Graduate Prize Studentship and APM is a Wellcome Trust Principal Research Fellow. AJB is the Cheryl and Reece Scott Professor of Psychiatry.
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Bonora, E., Lamb, J., Barnby, G. et al. Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. Eur J Hum Genet 13, 198–207 (2005). https://doi.org/10.1038/sj.ejhg.5201315
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DOI: https://doi.org/10.1038/sj.ejhg.5201315
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