FOXP2 is not a major susceptibility gene for autism or specific language impairment

D. F. Newbury, E. Bonora, J. A. Lamb, S. E. Fisher, C. S L Lai, G. Baird, L. Jannoun, V. Slonims, C. M. Stott, M. J. Merricks, P. F. Bolton, A. J. Bailey, Sarah Palferman, Nicola Matthews, Martha Turner, Janette Moore, Amaia Hervas, Anne Aubin, Simon Wallace, Janine MichelottiCatherine Wainhouse, Alina Paul, Elaine Thompson, Ramyani Gupta, Claire Garner, Marianne Murin, Christine Freitag, Nicola Ryder, Emily Cottington, Jeremy Parr, Greg Pasco, Andrew Pickles, Michael Rutter, Anthony Bailey, Janine A. Lamb, Gabrielle Barnby, Pat Scudder, Elena Bonora, Angela Marlow, 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, Emma Gaitonde, Patrick F. Bolton, Jonathan Green, Anne Gilchrist, Jane Whittacker, Bryan Bolton, Ros Packer, Elena Maestrini, Francesca Blasi, Elena Bacchelli, Herman Van Engeland, Maretha V. De Jonge, Chantal Kemner, Judith Timp, Sabine M. Klauck, Kim S. Beyer, Sabine Epp, Annemarie Poustka, Axel Benner, J. W. Goethe, 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, Torben Isager, Gunna Eriksen, Demetrious Haracopos, Karen Brondum-Nielsen, Rodney M J Cotterill, John Tsiantis, Katerina Papanikolaou, Catherine Lord, Christina Corsello, Stephen Guter, Bennett Leventhal, Edwin Cook, Susan L. Smalley, Stanley F. Nelson, Amy Liu, Janet Miller

    Research output: Contribution to journalArticlepeer-review


    The FOXP2 gene, located on human 7q31 (at the SPCH1 locus), encodes a transcription factor containing a polyglutamine tract and a forkhead domain. FOXP2 is mutated in a severe monogenic form of speech and language impairment, segregating within a single large pedigree, and is also disrupted by a translocation in an isolated case. Several studies of autistic disorder have demonstrated linkage to a similar region of 7q (the AUTS1 locus), leading to the proposal that a single genetic factor on 7q31 contributes to both autism and language disorders. In the present study, we directly evaluate the impact of the FOXP2 gene with regard to both complex language impairments and autism, through use of association and mutation screening analyses. We conclude that coding-region variants in FOXP2 do not underlie the AUTS1 linkage and that the gene is unlikely to play a role in autism or more common forms of language impairment.
    Original languageEnglish
    Pages (from-to)1318-1327
    Number of pages9
    JournalAmerican Journal of Human Genetics
    Issue number5
    Publication statusPublished - 2002


    • Alleles
    • Amino Acid Sequence
    • Autistic Disorder
    • Base Sequence
    • DNA Mutational Analysis
    • Exons
    • Female
    • Forkhead Transcription Factors
    • Gene Frequency
    • Genetic Predisposition to Disease
    • Genetic Screening
    • genetics
    • Humans
    • Introns
    • Language Disorders
    • Male
    • Microsatellite Repeats
    • Molecular Sequence Data
    • Pedigree
    • Polymorphism,Single Nucleotide
    • Repressor Proteins
    • Transcription Factors


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