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Authoritative: http://dx.doi.org/10.1038/35097076   (Publisher's PDF... likely be available here.)

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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 opportunity. Although studies of twins consistently indicate that a significant genetic component is involved, 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 trait. 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 interval. 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.

@article{lai01FOXP2,
  author={C.S.L. Lai and S.E. Fisher and J.A. Hurst and F. Vargha-Khadem and A.P. Monaco},
  title={A forkhead-domain gene is mutated in a severe speech and language disorder},
  journal={Nature},
  year={2001},
  volume={413},
  pages={519-523},
  doi={10.1038/35097076},
  url={http://www.isrl.uiuc.edu/~amag/langev/paper/lai01FOXP2.html}
}