Early neuroimaging markers of FOXP2 intragenic deletion

Journal article


Liégeois, Frédérique J., Hildebrand, Michael S., Bonthrone, Alexandra, Turner, Samantha J., Scheffer, Ingrid E., Bahlo, Melanie, Connelly, Alan and Morgan, Angela T.. (2016). Early neuroimaging markers of FOXP2 intragenic deletion. Scientific Reports. 6, p. Article: 35192. https://doi.org/10.1038/srep35192
AuthorsLiégeois, Frédérique J., Hildebrand, Michael S., Bonthrone, Alexandra, Turner, Samantha J., Scheffer, Ingrid E., Bahlo, Melanie, Connelly, Alan and Morgan, Angela T.
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 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.

Year2016
JournalScientific Reports
Journal citation6, p. Article: 35192
PublisherNature Publishing Group
ISSN2045-2322
Digital Object Identifier (DOI)https://doi.org/10.1038/srep35192
PubMed ID27734906
Scopus EID2-s2.0-84991669848
PubMed Central IDPMC5062117
Research or scholarlyResearch
Page range1-9
FunderAustralian Research Council (ARC)
National Health and Medical Research Council (NHMRC)
Publisher's version
License
All rights reserved
File Access Level
Controlled
Output statusPublished
Publication dates
Online13 Oct 2016
Publication process dates
Accepted23 Sep 2016
Deposited06 Dec 2021
ARC Funded ResearchThis output has been funded, wholly or partially, under the Australian Research Council Act 2001
Grant IDARC/DP120100285
NHMRC/607315
NHMRC/1105008
NHMRC/1002098
NHMRC/1054618
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