Please use this identifier to cite or link to this item:
Title: Early neuroimaging markers of FOXP2 intragenic deletion
Austin Authors: Liégeois, Frédérique J;Hildebrand, Michael S ;Bonthrone, Alexandra;Turner, Samantha J;Scheffer, Ingrid E ;Bahlo, Melanie;Connelly, Alan;Morgan, Angela T
Affiliation: UCL Institute of Child Health, London, UK
Great Ormond Street Hospital for Children NHS Trust, London, UK
The University of Melbourne, Parkville, Victoria, Australia
Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia
Austin Health, Heidelberg, Victoria, Australia
Murdoch Childrens Research Institute, Melbourne, Victoria, Australia
The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia
Royal Children’s Hospital, Parkville, Victoria, Australia
Issue Date: 13-Oct-2016 2016-10-13
Publication information: 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.
DOI: 10.1038/srep35192
ORCID: 0000-0002-2311-2174
Journal: Scientific Reports
PubMed URL:
Type: Journal Article
Appears in Collections:Journal articles

Show full item record

Page view(s)

checked on Jan 30, 2023

Google ScholarTM


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.