A forkhead-domain gene is mutated in a severe speech and language disorder

Cecilia S. L. Lai, Simon E. Fisher, Jane A. Hurst, Faraneh Vargha-Khadem and Anthony P. Monaco ()
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Cecilia S. L. Lai: Wellcome Trust Centre for Human Genetics, University of Oxford
Simon E. Fisher: Wellcome Trust Centre for Human Genetics, University of Oxford
Faraneh Vargha-Khadem: Oxford Radcliffe Hospital
Anthony P. Monaco: Wellcome Trust Centre for Human Genetics, University of Oxford

Nature, 2001, vol. 413, issue 6855, 519-523

Abstract: Abstract Individuals affected with developmental disorders of speech and language have substantial difficulty acquiring expressive and/or receptive language in the absence of any profound sensory or neurological impairment and despite adequate intelligence and opportunity1. Although studies of twins consistently indicate that a significant genetic component is involved1,2,3, most families segregating speech and language deficits show complex patterns of inheritance, and a gene that predisposes individuals to such disorders has not been identified. We have studied a unique three-generation pedigree, KE, in which a severe speech and language disorder is transmitted as an autosomal-dominant monogenic trait4. Our previous work mapped the locus responsible, SPCH1, to a 5.6-cM interval of region 7q31 on chromosome 7 (ref. 5). We also identified an unrelated individual, CS, in whom speech and language impairment is associated with a chromosomal translocation involving the SPCH1 interval6. Here we show that the gene FOXP2, which encodes a putative transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain, is directly disrupted by the translocation breakpoint in CS. In addition, we identify a point mutation in affected members of the KE family that alters an invariant amino-acid residue in the forkhead domain. Our findings suggest that FOXP2 is involved in the developmental process that culminates in speech and language.

Date: 2001
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DOI: 10.1038/35097076

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