Early neuroimaging markers of FOXP2 intragenic deletion.

摘要: FOXP2 is the major gene associated with severe, persistent, developmental speech and language disorders. While studies in original family which a mutation was found showed volume reduction reduced activation core networks, there have been no imaging of different mutations. We conducted multimodal MRI study an eight-year-old boy (A-II) de novo intragenic deletion. A-II marked bilateral reductions hippocampus, thalamus, globus pallidus, caudate nucleus compared 26 control males (effect sizes from −1 to −3). He detectable functional activity when repeating nonsense words. The hippocampus implicated for first time diseases. conclude that anomaly either directly or indirectly atypical development widespread subcortical networks early life.