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

J Neurodev Disord. 2021 Apr 23;13(1):18. doi: 10.1186/s11689-021-09358-1.


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 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.

Keywords: ASD; Autism spectrum disorder; FOXP1; FOXP1 syndrome; Forkhead box protein 1.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Autism Spectrum Disorder*
  • Forkhead Transcription Factors
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability*
  • Repressor Proteins


  • FOXP1 protein, human
  • Forkhead Transcription Factors
  • Repressor Proteins