作者
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 Cardy, Juha Kere, Stephen W Scherer, Katariina Hannula-Jouppi
发表日期
2006/11/1
期刊
The American Journal of Human Genetics
卷号
79
期号
5
页码范围
965-972
出版商
Elsevier
简介
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 …
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L Feuk, A Kalervo, M Lipsanen-Nyman, J Skaug… - The American Journal of Human Genetics, 2006