Journal article
Early neuroimaging markers of FOXP2 intragenic deletion
FJ Liégeois, MS Hildebrand, A Bonthrone, SJ Turner, IE Scheffer, M Bahlo, A Connelly, AT Morgan
Scientific Reports | NATURE PORTFOLIO | Published : 2016
DOI: 10.1038/srep35192
Abstract
FOXP2 is the major gene associated with severe, persistent, developmental speech and language disorders. While studies in the original family in which a FOXP2 mutation was found showed volume reduction and reduced activation in core language and speech networks, there have been no imaging studies of different FOXP2 mutations. We conducted a multimodal MRI study in an eight-year-old boy (A-II) with a de novo FOXP2 intragenic deletion. A-II showed marked bilateral volume reductions in the hippocampus, thalamus, globus pallidus, and caudate nucleus compared with 26 control males (effect sizes from '1 to '3). He showed no detectable functional MRI activity when repeating nonsense words. The hipp..
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Awarded by University College London Hospitals NHS Foundation Trust
Funding Acknowledgements
We thank A-II and his family for their time. This work was supported by Victorian State Government Operational Infrastructure Support and the Australian Research Council Discovery Project grant (DP120100285) awarded to A.T.M., F.L., I.S., A.C. and M.B. The work is also supported by IRIISS funding to the Walter and Eliza Hall Institute of Medical Research (M.B. and S.T.). The NHMRC of Australia provided further support to A.M. (Career Development Fellowship 607315 and Practitioner Fellowship 1105008) and M.B. (Senior Research Fellowship 1002098 and Program Grant 1054618 to M.B.). F.L.'s research is supported by the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London (London, UK).