A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium

Anthony Bailey, Amaia Hervás(Medical Research Council), Nicola Matthews(Medical Research Council), Sarah Palferman(Medical Research Council), Simon Wallace(Medical Research Council), Anne Aubin(Medical Research Council), Janine Michelotti(Medical Research Council), Catherine Wainhouse(Medical Research Council), Katerina Papanikolaou(Medical Research Council), Michael Rutter(Medical Research Council), Elena Maestrini(University of Oxford), Angela J. Marlow(University of Oxford), Daniel E. Weeks(University of Pittsburgh), Janine A. Lamb(University of Oxford), Clyde Francks, Georgina Kearsley(University of Oxford), P Scudder(University of Oxford), Anthony P. Monaco(University of Oxford), Gillian Baird(Guy's Hospital), Anthony D. Cox(Guy's Hospital), Helen Cockerill(Guy's Hospital), Nuffield, F., Le Couteur, A., Berney, T., Cooper, H., Kelly, T., Green, J.(University of Manchester), Whittaker, J.(University of Manchester), Gilchrist, A.(University of Manchester), Bolton, P.(University of Cambridge), Schönewald, A.(University of Cambridge), Daker, M.(Guy's Hospital), Ogilvie, C.(Guy's Hospital), Docherty, Z.(Guy's Hospital), Deans, Z.(Guy's Hospital), Bolton, B., Packer, R., Poustka, F.(Goethe University Frankfurt), Rühl, D.(Goethe University Frankfurt), Schmötzer, G.(Goethe University Frankfurt), Bölte, S.(Goethe University Frankfurt), Klauck, S.(German Cancer Research Center), Spieler, A.(German Cancer Research Center), Poustka., A.(German Cancer Research Center), Van Engeland, H., Kemner, C., De Jonge, M., Den Hartog, I., Lord, C.(University of Chicago), Cook, E.(University of Chicago), Leventhal, B., Volkmar, F.(University of Chicago), Pauls, D.(University of Chicago), Klin, A.(University of Chicago), Smalley, S.(University of Chicago), Fombonne, E.(Université Fédérale de Toulouse Midi-Pyrénées), Rogé, B.(Université Fédérale de Toulouse Midi-Pyrénées), Tauber, M.(Université Fédérale de Toulouse Midi-Pyrénées), Arti-Vartayan, E.(Université Fédérale de Toulouse Midi-Pyrénées), Fremolle-Kruck., J.(Université Fédérale de Toulouse Midi-Pyrénées), Pederson, L., Haracopos, D., Brondum-Nielsen, K., Cotterill, R.(Technical University of Denmark)
Human Molecular Genetics
March 1, 1998
10.1093/hmg/7.3.571
Cited by 540Open Access
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Abstract

Autism is characterized by impairments in reciprocal social interaction and communication, and restricted and sterotyped 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 lod 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.

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