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  • Title: FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring.
    Author: Lozano R, Gbekie C, Siper PM, Srivastava S, Saland JM, Sethuram S, Tang L, Drapeau E, Frank Y, Buxbaum JD, Kolevzon A.
    Journal: J Neurodev Disord; 2021 Apr 23; 13(1):18. PubMed ID: 33892622.
    Abstract:
    FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of many organ systems, including the brain. Numerous clinical studies have elucidated the role of FOXP1 in neurodevelopment and have characterized a phenotype. FOXP1 syndrome is associated with intellectual disability, language deficits, autism spectrum disorder, hypotonia, and congenital anomalies, including mild dysmorphic features, and brain, cardiac, and urogenital abnormalities. Here, we present a review of human studies summarizing the clinical features of individuals with FOXP1 syndrome and enlist a multidisciplinary group of clinicians (pediatrics, genetics, psychiatry, neurology, cardiology, endocrinology, nephrology, and psychology) to provide recommendations for the assessment of FOXP1 syndrome.
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