Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q

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, Anthony Bailey, Janine Lamb, Angela Marlow, Pat ScudderGabrielle Barnby, Anthony P. Monaco, Gillian Baird, Anthony Cox, Zoe Docherty, Pamela Warburton, Elizabeth P. Green, Stephen J. Abbs, Ann Le Couteur, Helen R. McConachie, Tom Berney, Thomas P. Kelly, Petrus J. De Vries, Patrick F. Bolton, Jonathan Green, Anne Gilchrist, Jane Whittacker, Bryan Bolton, Ros Packer, Elena Maestrini, Herman Van Engeland, Maretha V. De Jonge, Chantal Kemner, Sabine M. Klauck, Kim S. Beyer, Sabine Epp, Annemarie Poustka, Axel Benner, Fritz Poustka, Dorothea Rühl, Gabriele Schmötzer, Sven Bölte, Sabine Feineis-Matthews, Eric Fombonne, Bernadette Rogé, Jeanne Fremolle-Kruck, Catherine Pienkowski, Marie Thérèse Tauber, Lennart Pedersen, Karen Brondum-Nielsen, Gunna Eriksen, Demetrious Haracopos, Rodney M J Cotterill, John Tsiantis, Katerina Papanikolaou, Catherine Lord, Christina Corsello, Stephen Guter, Bennett Leventhal, Edwin Cook, Susan Smalley, Julia Bailey, Amy Liu, Martha Dedricks, Lisa Chrzanowski, Jennifer Levitt, David Pauls, Fred Volkmar, Daniel E. Weeks

Research output: Contribution to journalArticlepeer-review


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.
Original languageEnglish
Pages (from-to)973-982
Number of pages9
JournalHuman Molecular Genetics
Issue number9
Publication statusPublished - 15 Apr 2001


  • Alleles
  • analysis
  • Autistic Disorder
  • Chromosome Mapping
  • Chromosomes,Human
  • Chromosomes,Human,Pair 7
  • Disease Susceptibility
  • Female
  • Genetic Markers
  • genetics
  • Genome
  • Genotype
  • Human
  • Linkage (Genetics)
  • Linkage Disequilibrium
  • Lod Score
  • Male
  • Polymerase Chain Reaction
  • Support,Non-U.S.Gov't
  • Support,U.S.Gov't,P.H.S.


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