Human Molecular Genetics, 2001, Vol. 10, No. 9 973-982
© 2001 Oxford University Press
Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q
Study of Autism Consortium+
Autism is a neurodevelopmental disorder that usually arises on the basis of a complex genetic predisposition. The most significant susceptibility region in the first whole genome screen of multiplex families was on chromosome 7q, although this linkage was evident only in UK IMGSAC families. Subsequently all other genome screens of non-UK families have found some evidence of increased allele sharing in an overlapping 40 cM region of 7q. To further characterize this susceptibility locus, linkage analysis has now been completed on 170 multiplex IMGSAC families. Using a 5 cM marker grid, analysis of 125 sib pairs meeting stringent inclusion criteria resulted in a multipoint maximum LOD score (MLS) of 2.15 at D7S477, whereas analysis of all 153 sib pairs generated an MLS of 3.37. The 71 non-UK sib pairs now contribute to this linkage. Linkage disequilibrium mapping identified two regions of association—one lying under the peak of linkage, the other some 27 cM distal. These results are supported in part by findings in independent German and American singleton families.
+ http://www.well.ox.ac.uk/~maestrin/iat.html MRC Child Psychiatry Unit and Centre for Social, Genetic and Developmental Psychiatry, Institute of Psychiatry, London, UK: Sarah Palferman, Nicola Matthews, Martha Turner, Janette Moore, Amaia Hervas, Anne Aubin, Simon Wallace, Janine Michelotti, Catherine Wainhouse, Alina Paul, Elaine Thompson, Marianne Murin, Ramyani Gupta, Claire Garner, Andrew Pickles, Michael Rutter and Anthony Bailey
. Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK: Janine A. Lamb, Angela Marlow, Pat Scudder, Gabrielle Barnby and Anthony P. Monaco. Newcomen Centre, Guy’s Hospital, London, UK: Gillian Baird and Anthony Cox; Regional Genetics Centre, Division of Medical and Molecular Genetics, Guy’s Hospital, London, UK: Zoe Docherty, Pamela Warburton, Elizabeth P. Green and Stephen J. Abbs. Flemming Nuffield Unit, Newcastle, UK: Ann Le Couteur, Helen R. McConachie and Tom Berney; Neuropsychology Department, Newcastle General Hospital, Newcastle, UK: Thomas P. Kelly. Developmental Psychiatry Section, University of Cambridge Clinical School, Cambridge, UK: Petrus J. De Vries and Patrick F. Bolton. Booth Hall Children’s Hospital, Manchester, UK: Jonathan Green, Anne Gilchrist and Jane Whittacker. European Centre for Collection of Animal Cell Cultures, Salisbury, UK: Bryan Bolton and Ros Packer. Dipartimento di Biologia, Universita’ di Bologna, Bologna, Italy: Elena Maestrini. AZU, Department of Child and Adolescent Psychiatry, Utrecht, The Netherlands: Herman Van Engeland, Maretha V. De Jonge and Chantal Kemner. Deutsches Krebsforschungszentrum, Molecular Genome Analysis, Heidelberg, Germany: Sabine M. Klauck, Kim S. Beyer, Sabine Epp and Annemarie Poustka; Deutsches Krebsforschungszentrum, Biostatistics, Heidelberg, Germany: Axel Benner. J.W. Goethe-Universität, Department of Child and Adolescent Psychiatry, Frankfurt, Germany: Fritz Poustka, Dorothea Rühl, Gabriele Schmötzer, Sven Bölte and Sabine Feineis-Matthews. Unite de Diagnostic et Evaluation de l’autisme, Hopital la Grave, Toulouse, France: Eric Fombonne, Bernadette Rogé, Jeanne Fremolle-Kruck, Catherine Pienkowski and Marie-Thérèse Tauber. National Centre for Autism, Virum, Denmark: Lennart Pedersen, Karen-Brondum-Nielsen, Gunna Eriksen and Demetrious Haracopos. Biophysics, Danish Technical University, Lyngby, Denmark: Rodney M.J. Cotterill. Department of Psychological Paediatrics, Agia Sophia Children’s Hospital, Athens, Greece: John Tsiantis and Katerina Papanikolaou. Department of Psychiatry, University of Chicago, Chicago, USA: Catherine Lord, Christina Corsello, Stephen Guter, Bennett Leventhal and Edwin Cook. UCLA Center for Neurobehavioural Genetics, Los Angeles, USA: Susan Smalley, Julia Bailey, Amy Liu, Martha Dedricks, Lisa Chrzanowski and Jennifer Levitt. Child Study Centre, Sterling Hall of Medicine, Yale University, New Haven, USA: David Pauls and Fred Volkmar. Department of Human Genetics, University of Pittsburgh, Pittsburgh, USA: Daniel E. Weeks. To whom correspondence should be addressed. A.J. Bailey, Centre for Social, Genetic and Developmental Psychiatry, Institute of Psychiatry, De Crespigny Park, London SE5 8AF, UK; Tel: +44 207 252 5756; Fax: +44 207 252 5107; Email: anthony.bailey@iop.kcl.ac.uk; A.P. Monaco, Wellcome Trust for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK; Tel: +44 1865 287502; Fax: +44 1865 287501; Email: anthony.monaco@well.ox.ac.uk
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