Analysis of FOXP1 mutations in patients with language impairments

FOXP1 (forkhead-box protein P1) is a transcription factor essential for embryonic brain development involved in neurodevelopment disorders characterized by intellectual disability, speech and language delay, motor delay, ASD. We are currently performing a functional characterization of the FOXP1 variants in order to evaluate their effects on protein expression and transcription activity. This work promises to provide new data to improve genotype-phenotype correlation and elucidate the pathogenic mechanisms underlying FOXP1-related conditions.

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