A full genome screen for autism with evidence for linkage to a region on chromosome 7q

Anthony Bailey, Amaia Hervas, Nicola Matthews, Sarah Palferman, Simon Wallace, Anne Aubin, Janine Michelotti, Catherine Wainhouse, Katerina Papanikolaou, Michael Rutter, Elena Maestrini, Angela Marlow, Daniel E. Weeks, Janine Lamb, Clyde Francks, Georgina Kearsley, Pat Scudder, Anthony P. Monaco, Gillian Baird, Anthony CoxHelen Cockerill, Ann Le Couteur, Tom Berney, Hayley Cooper, Tom Kelly, Jonathan Green, Jane Whittaker, Anne Gilchrist, Patrick Bolton, Anne Schönewald, Michael Daker, Caroline Ogilvie, Zoe Docherty, Zandra Deans, Bryan Bolton, Ros Packer, Fritz Poustka, Dorothea Rühl, Gabriele Schmötzer, Sven Bölte, Sabine M. Klauck, Anja Spieler, Annemarie Poustka, Herman Van Engeland, Chantal Kemner, Maretha De Jonge, Ineke Den Hartog, Catherine Lord, Edwin Cook, Bennett Leventhal, Fred Volkmar, David Pauls, Ami Klin, Susan Smalley, Eric Fombonne, Bernadette Rogé, Maite Tauber, Evelyne Arti-Vartayan, Jeanne Fremolle-Kruck, Lennart Pederson, Demetrious Haracopos, Karen Brondum-Nielsen, Rodney Cotterill

    Research output: Contribution to journalArticlepeer-review


    Autism is characterized by impairments in reciprocal social interaction and communication, and restricted and stereotyped patterns of interests and activities. Developmental difficulties are apparent before 3 years of age and there is evidence for strong genetic influences most likely involving more than one susceptibility gene. A two-stage genome search for susceptibility loci in autism was performed on 87 affected sib pairs plus 12 non-sib affected relative-pairs, from a total of 99 families identified by an international consortium. Regions on six chromosomes (4, 7, 10, 16, 19 and 22) were identified which generated a multipoint maximum Iod score (MLS) > 1. A region on chromosome 7q was the most significant with an MLS of 3.55 near markers D7S530 and D7S684 in the subset of 56 UK affected sib-pair families, and an MLS of 2.53 in all 87 affected sib-pair families. An area on chromosome 16p near the telomere was the next most significant, with an MLS of 1.97 in the UK families, and 1.51 in all families. These results are an important step towards identifying genes predisposing to autism; establishing their general applicability requires further study.
    Original languageEnglish
    Pages (from-to)571-578
    Number of pages7
    JournalHuman Molecular Genetics
    Issue number3
    Publication statusPublished - Mar 1998


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