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FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring.


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.

SUBMITTER: Lozano R 

PROVIDER: S-EPMC8066957 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature

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FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring.

Lozano Reymundo R   Gbekie Catherine C   Siper Paige M PM   Srivastava Shubhika S   Saland Jeffrey M JM   Sethuram Swathi S   Tang Lara L   Drapeau Elodie E   Frank Yitzchak Y   Buxbaum Joseph D JD   Kolevzon Alexander A  

Journal of neurodevelopmental disorders 20210423 1


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 an  ...[more]

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