Article
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.
Human mutation - 1 Nov 2017
Sollis Elliot, Deriziotis Pelagia, Saitsu Hirotomo, Miyake Noriko, Matsumoto Naomichi, Hoffer Mariëtte J V, Ruivenkamp Claudia A L, Alders Mariëlle, Okamoto Nobuhiko, Bijlsma Emilia K, Plomp Astrid S, Fisher Simon E
Abstract excerpt
The closely related paralogues FOXP2 and FOXP1 encode transcription factors with shared functions in the development of many tissues, including the brain. However, while mutations in FOXP2 lead to a speech/language disorder characterized by childhood apraxia of speech (CAS), the clinical profile of FOXP1 variants includes a broader neurodevelopmental phenotype with global developmental delay, intellectual...
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