RGD Reference Report - Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. - Rat Genome Database

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Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.

Authors: Feuk, L  Kalervo, A  Lipsanen-Nyman, M  Skaug, J  Nakabayashi, K  Finucane, B  Hartung, D  Innes, M  Kerem, B  Nowaczyk, MJ  Rivlin, J  Roberts, W  Senman, L  Summers, A  Szatmari, P  Wong, V  Vincent, JB  Zeesman, S  Osborne, LR  Cardy, JO  Kere, J  Scherer, SW  Hannula-Jouppi, K 
Citation: Feuk L, etal., Am J Hum Genet. 2006 Nov;79(5):965-72. Epub 2006 Sep 27.
RGD ID: 11526702
Pubmed: (View Article at PubMed) PMID:17033973
DOI: Full-text: DOI:10.1086/508902

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.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Foxp2  (forkhead box P2)

Genes (Mus musculus)
Foxp2  (forkhead box P2)

Genes (Homo sapiens)
FOXP2  (forkhead box P2)


Additional Information