FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring
Reymundo Lozano, Catherine Gbekie, Paige M. Siper, Shubhika Srivastava, Jeffrey M. Saland, Swathi Sethuram, Lara Tang, Elodie Drapeau, Yitzchak Frank, Joseph D. Buxbaum, Alexander Kolevzon
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.