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- Title
FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring.
- Authors
Lozano, Reymundo; Gbekie, Catherine; Siper, Paige M.; Srivastava, Shubhika; Saland, Jeffrey M.; Sethuram, Swathi; Tang, Lara; Drapeau, Elodie; Frank, Yitzchak; Buxbaum, Joseph D.; Kolevzon, Alexander
- 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.
- Subjects
NEURODEVELOPMENTAL treatment; TRANSCRIPTION factors; FORKHEAD transcription factors; AUTISM spectrum disorders; ENDOCRINOLOGY
- Publication
Journal of Neurodevelopmental Disorders, 2021, Vol 13, Issue 1, p1
- ISSN
1866-1947
- Publication type
Article
- DOI
10.1186/s11689-021-09358-1