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

Journal of Neurodevelopmental Disorders

卷:13

Catherine Gbekie¹  Reymundo Lozano¹  Elodie Drapeau¹  Lara Tang¹  Joseph D. Buxbaum¹  Jeffrey M. Saland²  Shubhika Srivastava²  Swathi Sethuram²  Paige M. Siper³  Yitzchak Frank³  Alexander Kolevzon³ 

[1] Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai;

[2] Department of Pediatrics, Icahn School of Medicine at Mount Sinai;

[3] Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai;

关键词: FOXP1;    Forkhead box protein 1;    ASD;    Autism spectrum disorder;    FOXP1 syndrome;   

DOI  :  10.1186/s11689-021-09358-1

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown