FOXP1, also known as Forkhead-box Protein P1, is a transcription factor protein belonging to the FOX gene family. Disruptions in the FOXP1 gene cause a phenotype characterized by global developmental delay, speech deficits, mild dysmorphic features, and traits of autism spectrum disorder. This study seeks to characterize FOXP1-related neurodevelopmental disorders using a number of genetic, medical and neuropsychological measures.
Eligible participants must have a documented variant affecting the FOXP1 gene that the research team determines to be likely or definitely pathogenic.
Eligible participants must be at least 2 years of age.
none
Individuals for this cohort study will be selected from any population, provided that they have a variant in the FOXP1 gene and meet eligibility requirements.
Cohort
Cross-sectional
Not listed
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Differential Ability Scales (DAS)
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Icahn School of Medicine at Mount Sinai
Lead sponsor
The Seaver Foundation
Collaborator
Autism Science Foundation
Collaborator
Research Foundation for Mental Hygiene, Inc.
Collaborator
