title: Early neuroimaging markers of FOXP2 intragenic deletion.
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.
authors.affiliation: UCL Institute of Child Health, London, UK.|Great Ormond Street Hospital for Children NHS Trust, London, UK.
authors.forename: Frédérique J
authors.initials: FJ
authors.lastname: Liégeois
authors.affiliation: University of Melbourne, Australia.|Austin Health, Melbourne, Australia.
authors.forename: Michael S
authors.initials: MS
authors.lastname: Hildebrand
authors.affiliation: UCL Institute of Child Health, London, UK.|Great Ormond Street Hospital for Children NHS Trust, London, UK.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Bonthrone
authors.affiliation: University of Melbourne, Australia.|Murdoch Childrens Research Institute, Melbourne, Australia.
authors.forename: Samantha J
authors.initials: SJ
authors.lastname: Turner
authors.affiliation: University of Melbourne, Australia.|Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.|Austin Health, Melbourne, Australia.|Royal Children's Hospital, Melbourne, Australia.
authors.forename: Ingrid E
authors.initials: IE
authors.lastname: Scheffer
authors.affiliation: University of Melbourne, Australia.|The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia.
authors.forename: Melanie
authors.initials: M
authors.lastname: Bahlo
authors.affiliation: University of Melbourne, Australia.|Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.
authors.forename: Alan
authors.initials: A
authors.lastname: Connelly
authors.affiliation: University of Melbourne, Australia.|Murdoch Childrens Research Institute, Melbourne, Australia.|Royal Children's Hospital, Melbourne, Australia.
authors.forename: Angela T
authors.initials: AT
authors.lastname: Morgan
mesh_terms: D002648:Child; D018389:Codon, Nonsense / Q000235:genetics; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006624:Hippocampus / Q000378:metabolism; D006801:Humans; D007802:Language; D007806:Language Disorders / Q000235:genetics / Q000378:metabolism; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation / Q000235:genetics; D059906:Neuroimaging / Q000379:methods; D017384:Sequence Deletion / Q000235:genetics*; D013060:Speech / Q000502:physiology
chemical_list: D018389:Codon, Nonsense; C465448:FOXP2 protein, human; D051858:Forkhead Transcription Factors