TY - JOUR
T1 - FOXP1 syndrome
T2 - a review of the literature and practice parameters for medical assessment and monitoring
AU - Lozano, Reymundo
AU - Gbekie, Catherine
AU - Siper, Paige M.
AU - Srivastava, Shubhika
AU - Saland, Jeffrey M.
AU - Sethuram, Swathi
AU - Tang, Lara
AU - Drapeau, Elodie
AU - Frank, Yitzchak
AU - Buxbaum, Joseph D.
AU - Kolevzon, Alexander
N1 - Publisher Copyright:
© 2021, The Author(s).
PY - 2021/12
Y1 - 2021/12
N2 - 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.
AB - 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.
KW - ASD
KW - Autism spectrum disorder
KW - FOXP1
KW - FOXP1 syndrome
KW - Forkhead box protein 1
UR - http://www.scopus.com/inward/record.url?scp=85104755900&partnerID=8YFLogxK
U2 - 10.1186/s11689-021-09358-1
DO - 10.1186/s11689-021-09358-1
M3 - Review article
C2 - 33892622
AN - SCOPUS:85104755900
SN - 1866-1947
VL - 13
JO - Journal of Neurodevelopmental Disorders
JF - Journal of Neurodevelopmental Disorders
IS - 1
M1 - 18
ER -