Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

Thirteen patients with developmental verbal dyspraxia (DVD)-5 with hemizygous paternal deletions spanning the FOXP2 gene, 1 with a translocation interrupting POXP2 and 7 with maternal uniparental disomy of chromosome 7 (UPD7), who are also given diagnosis of silver-Russell Syndrome (SRS) are characterized. The maternally inherited FOXP2 is comparatively underexpressed and results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7.