Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

Lars Feuk, Aino Kalervo, Marita Lipsanen-Nyman, Jennifer Skaug, Kazuhiko Nakabayashi, Brenda Finucane, Danielle Hartung, Micheil Innes, Batsheva Kerem, Małgorzata J. Nowaczyk, Joseph Rivlin, Wendy Roberts, Lili Senman, Anne Summers, Peter Szatmari, Virginia Wong, John B. Vincent, Susan Zeesman, Lucy R. Osborne, Janis Oram CardyJuha Kere, Stephen W. Scherer*, Katariina Hannula-Jouppi

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

148 Scopus citations


Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases have been described. We characterize 13 patients with DVD-5 with hemizygous paternal deletions spanning the FOXP2 gene, 1 with a translocation interrupting FOXP2, and the remaining 7 with maternal uniparental disomy of chromosome 7 (UPD7), who were also given a diagnosis of Silver-Russell Syndrome (SRS). Of these individuals with DVD, all 12 for whom parental DNA was available showed absence of a paternal copy of FOXP2. Five other individuals with deletions of paternally inherited FOXP2 but with incomplete clinical information or phenotypes too complex to properly assess are also described. Four of the patients with DVD also meet criteria for autism spectrum disorder. Individuals with paternal UPD7 or with partial maternal UPD7 or deletion starting downstream of FOXP2 do not have DVD. Using quantitative real-time polymerase chain reaction, we show the maternally inherited FOXP2 to be comparatively underexpressed. Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7. The data also point to a role for differential parent-of-origin expression of FOXP2 in human speech development.

Original languageAmerican English
Pages (from-to)965-972
Number of pages8
JournalAmerican Journal of Human Genetics
Issue number5
StatePublished - Nov 2006

Bibliographical note

Funding Information:
We are grateful to the families who participated in this study. This study was supported by the Academy of Finland, the Sigrid Juselius Foundation (to J.K.), the Swedish Medical Research Council (to J.K. and L.F.), and the Genome Canada/Ontario Genomics Institute and the Hospital for Sick Children Foundation (to S.W.S.). S.W.S. is an investigator of the Canadian Institutes of Health Research and an International Scholar of the Howard Hughes Medical Institute.


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