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

Authors: Lai, CS  Fisher, SE  Hurst, JA  Vargha-Khadem, F  Monaco, AP 
Citation: Lai CS, etal., Nature. 2001 Oct 4;413(6855):519-23.
Pubmed: (View Article at PubMed) PMID:11586359
DOI: Full-text: DOI:10.1038/35097076

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.

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RGD Object Information
RGD ID: 11072822
Created: 2016-04-28
Species: All species
Last Modified: 2016-04-28
Status: ACTIVE



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