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 - Funding Information:
This work was supported by the Beatrice and Samuel A. Seaver Foundation (AK, JB, PS, RL), the Friedman Brain Institute (AK, RL), the NIH (GM082773 to RL), Harold Amos Faculty Development Award/ Robert Wood Johnson Foundation (RL), and the FOXP1 RareConnect group.
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 -