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

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

Reymundo Lozano  1   2   3   4 , Catherine Gbekie  5 , Paige M Siper  6   7 , Shubhika Srivastava  8 , Jeffrey M Saland  8   9 , Swathi Sethuram  8 , Lara Tang  5   6 , Elodie Drapeau  5   6 , Yitzchak Frank  6   7 , Joseph D Buxbaum  5   6   7   10   11 , Alexander Kolevzon  6   7   8   10   11
Affiliations
Review

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

Reymundo Lozano et al. J Neurodev Disord. .

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.

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

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Conflict of interest statement

AK receives research support from AMO Pharma and consults to Ovid Therapeutics, Acadia, Ritrova, and Alkermes. The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Facial characteristic of two individuals with FOXP1 sequence variants, ages 9 and 15, including prominent forehead, wide nasal bridge with a broad tip, down slanting palpebral fissures, mild ptosis, thick vermillion, and wide spacing between teeth
See this image and copyright information in PMC

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