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  A forkhead-domain gene is mutated in a severe speech and language disorder[Letters to Nature]

Lai, C. S. L., Fisher, S. E., Hurst, J. A., Vargha-Khadem, F., & Monaco, A. P. (2001). A forkhead-domain gene is mutated in a severe speech and language disorder[Letters to Nature]. Nature, 413, 519-523. doi:10.1038/35097076.

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Lai_A_Forkhead_Domain_Gene_Nature_2001.pdf (Publisher version), 401KB
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Lai, Cecilia S. L., Author
Fisher, Simon E.1, Author           
Hurst, Jane A., Author
Vargha-Khadem, Faraneh, Author
Monaco, Anthony P., Author
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1Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK, ou_persistent22              

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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

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 Dates: 2001
 Publication Status: Issued
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 Rev. Type: Peer
 Identifiers: DOI: 10.1038/35097076
PMID: 11586359
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Title: Nature
Source Genre: Journal
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Pages: - Volume / Issue: 413 Sequence Number: - Start / End Page: 519 - 523 Identifier: ISSN: 0028-0836
CoNE: https://pure.mpg.de/cone/journals/resource/954925427238