International Molecular Genetic Study of Autism Consortium (IMGSAC)

Principal Investigators: Professor Ann Le Couteur; Professor Helen McConachie

Collaborator(s): Professor Tony Bailey and Professor Tony Monaco, University of Oxford

Project Staff: Dr Tom Berney

Funding: European Commission, Medical Research Council and Wellcome Trust

Start and End dates: 1 January 2000 – 30 April 2003; 1 January 2006 ongoing

Abstract:

Newcastle is one of five UK sites for this International Consortium. Multiplex and singleton families have been recruited and analysis of data is currently underway. Our team has special responsibility for behavioural phenotypic characterisation of the subjects. This has now led to the publication of Autism Diagnostic Interview (recognised as one of the gold standard diagnostic instruments in the field of ASD research. Ann Le Couteur now regularly reviews and revises translations of ADI-R into other languages including Icelandic, Japanese, Mandarin Chinese.

Numerous Consortium Molecular Genetic papers have already been published and phenotypic and clinical academic papers are nearing completion.

Publications associated with Project:

Le Couteur AS, Lord C, Rutter M. Autism Diagnostic Interview Revised Manual. Los Angeles: Western Psychological Services. 2003

Newbury DF, Bonora E, Lamb JA, Fisher SE, Lai CSL, Baird G, Jannoun L, Slonims V, Stott CM, Merricks MJ, Bolton PF, Bailey Monaco AP, and the International Molecular Genetic Study of Autism Consortium. (Newcastle Site Le Couteur A, Berney T, McConachie H) 2002.  FOXP2 is not a major susceptibility gene for autism or specific language impairment. American Journal of Human Genetics. 2002; 70(5). 1318-27

Beyer KS, Blasi F, Bacchelli E, Klauck SM, Maestrini E, Poustka A, and the International Molecular Genetic Study of Autism Consortium (IMGSAC) (Newcastle Site Le Couteur, A., Berney, T., and McConachie, H.) (2002). Mutation analysis of the coding sequence of the MECP2 gene in infantile autism. Human Genetics. 111(4-5), 305-9

Bonora E, Bacchelli E, Levy ER, Blasi F, Marlow A, Monaco AP, Maestrini E, and IMGSAC (Newcastle Site Le Couteur A, Berney T, and McConachie H) (2002). Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region. Molecular Psychiatry 7, 289-301 33

Bacchelli E, Blasi F, Biondolillo M, Lamb JA, Bonora E, Barnby G, Parr J, Beyer KS, Klauck SM, Poustka A, Bailey AJ, Monaco AP, Maestrini E, and International Molecular Genetic Study of Autism IMGSAC (Newcastle Site Le Couteur, A., Berney, T., and McConachie, H.) (2003).  Screening of nine candidate genes for autism on chromosome 2q reveals rare non synonymous variants in the cAMP-GEFII gene. Molecular Psychiatry 8(11), 916-924

Bonora E, et al and International Molecular Genetic Study of Autism (Newcastle Site Le Couteur A, Berney T, McConachie H.) (IMGSAC). Analysis of reelin as a candidate gene for autism. Molecular Psychiatry. 2003; 8 (10): 885-892

Bonora E, et al and International Molecular Genetic Study of Autism (IMGSAC) (Newcastle Site Le Couteur A, Berney T, McConachie H.) Linkage to the AUTS1 locus and analysis of candidate genes for autism on chromosome 7q. American Journal of Human Genetics. 2003; Abstract 108

D’Adamo, P., Bacchelli, E., Blasi, F., Lipp, H.P., Toniolo, D., Mestrini, E., and the International Molecular Genetic Study of Autism Consortium (IMGSAC) (Newcastle Site Le Couteur, A., Berney, T., and McConachie, H.)  DNA variants in the human RAB3A gene are not associated with autism. Genes Brain Behaviour. 2004; 3(2): 123-124  

Barnby G, Abbott A, Sykes N, Morris A, Weeks DE, Lamb J, Bailey AJ, Monaco AP, and the International Molecular Genetics Study of Autism Consortium (Newcastle Site Le Couteur A, Berney T, McConachie H.) (IMGSAC) (2004) Candidate gene analysis for autism on chr. 16p. Journal of Human Genetics.

International Molecular Genetic Study of Autism Consortium.  Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q. Human Molecular Genetics. 2001; 10(9): 973-982

International Molecular Genetic Study of Autism Consortium.  Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. Journal of Medical Genetics. 2005; 42: 132-137