Early neuroimaging markers of FOXP2 intragenic deletion
Journal Title
Scientific Reports
Publication Type
Journal Article
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.
Publisher
Nature Springer
Research Division(s)
Population Health And Immunity
PubMed ID
27734906
NHMRC Grants
NHMRC/1002098NHMRC/1054618
ARC Grants
ARC/DP120100285,
Terms of Use/Rights Notice
Refer to copyright notice on published article.


Creation Date: 2016-10-19 11:52:30
Last Modified: 2016-10-19 12:17:53
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