Skip to content

Research at St Andrews

Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia

Research output: Contribution to journalArticlepeer-review

DOI

Author(s)

Sonja C Vernes, Kay D MacDermot, Anthony P Monaco, Simon E Fisher

School/Research organisations

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.

Close

Details

Original languageEnglish
Pages (from-to)1354-8
Number of pages5
JournalEuropean Journal of Human Genetics
Volume17
Issue number10
DOIs
Publication statusPublished - Oct 2009

    Research areas

  • Amino Acid Sequence, Apraxias/genetics, Child, Developmental Disabilities/genetics, Dimerization, Forkhead Transcription Factors/genetics, Heterozygote, Humans, Language, Molecular Sequence Data, Mutation, Repressor Proteins/genetics, Risk Factors, Sequence Homology, Amino Acid, Speech

Discover related content
Find related publications, people, projects and more using interactive charts.

View graph of relations

Related by author

  1. Towards complete and error-free genome assemblies of all vertebrate species

    Vertebrate Genome Project & Vernes, S. C., 28 Apr 2021, In: Nature. 592, 7856, p. 737-746 10 p.

    Research output: Contribution to journalArticlepeer-review

  2. DNA methylation predicts age and provides insight into exceptional longevity of bats

    Wilkinson, G. S., Adams, D. M., Haghani, A., Lu, A. T., Zoller, J., Breeze, C. E., Arnold, B. D., Ball, H. C., Carter, G. G., Cooper, L. N., Dechmann, D. K. N., Devanna, P., Fasel, N. J., Galazyuk, A. V., Günther, L., Hurme, E., Jones, G., Knörnschild, M., Lattenkamp, E. Z., Li, C. Z. & 14 others, Mayer, F., Reinhardt, J. A., Medellin, R. A., Nagy, M., Pope, B., Power, M. L., Ransome, R. D., Teeling, E. C., Vernes, S. C., Zamora-Mejías, D., Zhang, J., Faure, P. A., Greville, L. J. & Horvath, S., 12 Mar 2021, In: Nature Communications. 12, 13 p., 1615.

    Research output: Contribution to journalArticlepeer-review

  3. Hearing sensitivity and amplitude coding in bats are differentially shaped by echolocation calls and social calls

    Lattenkamp, E. Z., Nagy, M., Drexl, M., Vernes, S. C., Wiegrebe, L. & Knörnschild, M., 13 Jan 2021, In: Proceedings of the Royal Society B: Biological Sciences. 288, 1942, 10 p., 20202600.

    Research output: Contribution to journalArticlepeer-review

Related by journal

  1. Dissecting genetic factors involved in the relation between behavioural laterality and neurodevelopmental conditions

    Schmitz, J., Zheng, M., Lui, K. F. H., Ho, C. S. H., McBride, C. & Paracchini, S., 1 Dec 2020, In: European Journal of Human Genetics. 28, Suppl 1, p. 370-371 2 p., P09.005.C.

    Research output: Contribution to journalAbstractpeer-review

  2. GWAS on hand grip strength: new insights into the genetics of muscular strength support a strong genetic component at different ages

    Abbondanza, F. & Paracchini, S., 1 Dec 2020, In: European Journal of Human Genetics. 28, Suppl 1, p. 432-433 2 p., P10.26.C.

    Research output: Contribution to journalAbstractpeer-review

  3. Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort

    Becker, J., Czamara, D., Scerri, T. S., Ramus, F., Csépe, V., Talcott, J. B., Stein, J., Morris, A., Ludwig, K. U., Hoffmann, P., Honbolygó, F., Tóth, D., Fauchereau, F., Bogliotti, C., Iannuzzi, S., Chaix, Y., Valdois, S., Billard, C., George, F., Soares-Boucaud, I. & 21 others, Gérard, C-L., van der Mark, S., Schulz, E., Vaessen, A., Maurer, U., Lohvansuu, K., Lyytinen, H., Zucchelli, M., Brandeis, D., Blomert, L., Leppänen, P. H., Bruder, J., Monaco, A. P., Müller-Myhsok, B., Kere, J., Landerl, K., Nöthen, M. M., Schulte-Körne, G., Paracchini, S., Peyrard-Janvid, M. & Schumacher, J., May 2014, In: European Journal of Human Genetics. 22, 5, p. 675-680

    Research output: Contribution to journalArticlepeer-review

  4. Shining a light on CNTNAP2: complex functions to complex disorders

    Rodenas-Cuadrado, P., Ho, J. & Vernes, S. C., Feb 2014, In: European Journal of Human Genetics. 22, 2, p. 171-8 8 p.

    Research output: Contribution to journalReview articlepeer-review

ID: 272114028

Top