Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/16435
Title: Early neuroimaging markers of FOXP2 intragenic deletion
Authors: Liégeois, Frédérique J;Hildebrand, Michael S;Bonthrone, Alexandra;Turner, Samantha J;Scheffer, Ingrid E;Bahlo, Melanie;Connelly, Alan;Morgan, Angela T
Issue Date: 13-Oct-2016
EDate: 2016-10-13
Citation: Scientific Reports 2016; 6: 35192
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.
URI: http://ahro.austin.org.au/austinjspui/handle/1/16435
DOI: 10.1038/srep35192
ORCID: 0000-0002-2311-2174
0000-0001-5132-0774
PubMed URL: https://www.ncbi.nlm.nih.gov/pubmed/27734906
Type: Journal Article
Appears in Collections:Journal articles

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