Ontology highlight
ABSTRACT:
SUBMITTER: Feuk L
PROVIDER: S-EPMC1698557 | biostudies-literature | 2006 Nov
REPOSITORIES: biostudies-literature
Feuk Lars L Kalervo Aino A Lipsanen-Nyman Marita M Skaug Jennifer J Nakabayashi Kazuhiko K Finucane Brenda B Hartung Danielle D Innes Micheil M Kerem Batsheva B Nowaczyk Malgorzata J MJ Rivlin Joseph J Roberts Wendy W Senman Lili L Summers Anne A Szatmari Peter P Wong Virginia V Vincent John B JB Zeesman Susan S Osborne Lucy R LR Cardy Janis Oram JO Kere Juha J Scherer Stephen W SW Hannula-Jouppi Katariina K
American journal of human genetics 20060927 5
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 o ...[more]