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Early neuroimaging markers of FOXP2 intragenic deletion

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...

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Autores principales: Liégeois, Frédérique J., Hildebrand, Michael S., Bonthrone, Alexandra, Turner, Samantha J., Scheffer, Ingrid E., Bahlo, Melanie, Connelly, Alan, Morgan, Angela T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5062117/
https://www.ncbi.nlm.nih.gov/pubmed/27734906
http://dx.doi.org/10.1038/srep35192
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author Liégeois, Frédérique J.
Hildebrand, Michael S.
Bonthrone, Alexandra
Turner, Samantha J.
Scheffer, Ingrid E.
Bahlo, Melanie
Connelly, Alan
Morgan, Angela T.
author_facet Liégeois, Frédérique J.
Hildebrand, Michael S.
Bonthrone, Alexandra
Turner, Samantha J.
Scheffer, Ingrid E.
Bahlo, Melanie
Connelly, Alan
Morgan, Angela T.
author_sort Liégeois, Frédérique J.
collection PubMed
description 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 hippocampus is implicated for the first time in FOXP2 diseases. We conclude that FOXP2 anomaly is either directly or indirectly associated with atypical development of widespread subcortical networks early in life.
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spelling pubmed-50621172016-10-24 Early neuroimaging markers of FOXP2 intragenic deletion Liégeois, Frédérique J. Hildebrand, Michael S. Bonthrone, Alexandra Turner, Samantha J. Scheffer, Ingrid E. Bahlo, Melanie Connelly, Alan Morgan, Angela T. Sci Rep Article 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 hippocampus is implicated for the first time in FOXP2 diseases. We conclude that FOXP2 anomaly is either directly or indirectly associated with atypical development of widespread subcortical networks early in life. Nature Publishing Group 2016-10-13 /pmc/articles/PMC5062117/ /pubmed/27734906 http://dx.doi.org/10.1038/srep35192 Text en Copyright © 2016, The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
spellingShingle Article
Liégeois, Frédérique J.
Hildebrand, Michael S.
Bonthrone, Alexandra
Turner, Samantha J.
Scheffer, Ingrid E.
Bahlo, Melanie
Connelly, Alan
Morgan, Angela T.
Early neuroimaging markers of FOXP2 intragenic deletion
title Early neuroimaging markers of FOXP2 intragenic deletion
title_full Early neuroimaging markers of FOXP2 intragenic deletion
title_fullStr Early neuroimaging markers of FOXP2 intragenic deletion
title_full_unstemmed Early neuroimaging markers of FOXP2 intragenic deletion
title_short Early neuroimaging markers of FOXP2 intragenic deletion
title_sort early neuroimaging markers of foxp2 intragenic deletion
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5062117/
https://www.ncbi.nlm.nih.gov/pubmed/27734906
http://dx.doi.org/10.1038/srep35192
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