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Reference: Sonja C. Vernes, Kay D. MacDermot, Anthony P. Monaco et al., (2009). Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia. European Journal of Human Genetics, 17 (10), 1354–1358.Citable link to this page:

 

Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia

Abstract: Neurodevelopmental disorders that disturb speech and language are highly heritable. Isolation of the underlying genetic risk factors has been hampered by complexity of the phenotype and potentially large number of contributing genes. One exception is the identification of rare heterozygous mutations of the FOXP2 gene in a monogenic syndrome characterised by impaired sequencing of articulatory gestures, disrupting speech (developmental verbal dyspraxia, DVD), as well as multiple deficits in expressive and receptive language. The protein encoded by FOXP2 belongs to a divergent subgroup of forkhead-box transcription factors, with a distinctive DNA-binding domain and motifs that mediate hetero- and homodimerisation. FOXP1, the most closely related member of this subgroup, can directly interact with FOXP2 and is co-expressed in neural structures relevant to speech and language disorders. Moreover, investigations of songbird orthologues indicate that combinatorial actions of the two proteins may play important roles in vocal learning, leading to the suggestion that human FOXP1 should be considered a strong candidate for involvement in DVD. Thus, in this study, we screened the entire coding region of FOXP1 (exons and flanking intronic sequence) for nucleotide changes in a panel of probands used earlier to detect novel mutations in FOXP2. A non-synonymous coding change was identified in a single proband, yielding a proline-to-alanine change (P215A). However, this was also found in a random control sample. Analyses of non-coding SNP changes did not find any correlation with affection status. We conclude that FOXP1 mutations are unlikely to represent a major cause of DVD.

Publication status:PublishedPeer Review status:Peer reviewedVersion:Publisher's version Funder: Wellcome Trust   Funder: Autism Speaks   Notes:Citation: Vernes, S. C. et al. (2009). 'Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia', European Journal of Human Genetics, 17(10), 1354–1358. [Available at http://www.nature.com/ejhg/journal]. This work is licensed under the Creative Commons Attribution-NonCommercial-No Derivative Works 3.0 License. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/3.0/.

Bibliographic Details

Publisher: Macmillan Publishers Ltd.

Publisher Website:

Host: European Journal of Human Geneticssee more from them

Publication Website: http://www.nature.com/ejhg

Issue Date: 2009-October

Copyright Date: 2009

pages:1354–1358Identifiers

Doi: https://doi.org/10.1038/ejhg.2009.43

Issn: 1018-4813

Eissn: 1476-5438

Urn: uuid:21ca16b9-1d6b-4d76-b728-0f5f40891465 Item Description

Type: Article: post-print;

Language: en

Version: Publisher's versionKeywords: speech and language developmental verbal dyspraxia transcription factor FOXP2 FOXP1 heterodimerisationSubjects: Genetics (medical sciences) Tiny URL: ora:3177

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Autor: Sonja C. Vernes - institutionUniversity of Oxford facultyMedical Sciences Division - Clinical Medicine,Nuffield Department of - W

Fuente: https://ora.ox.ac.uk/objects/uuid:21ca16b9-1d6b-4d76-b728-0f5f40891465



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