ArticleScientific reports2018
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 16 citations in OpenAlex.
- FOXP Transcription Factors in Thyroid Cancer: From Molecular Expression to Clinical Significance.Biomedicines · 2026Review
- FOXP1 is associated with oncogenesis and clinical outcomes in hematologic malignancies.Frontiers in immunology · 2025Article
- FOXP1 orchestrates neurogenesis in human cortical basal radial glial cells.PLoS biology · 2023Article
- Case report: Expanding the phenotype ofFrontiers in neurology · 2023Article
- The value of genome-wide analysis in craniosynostosis.Frontiers in genetics · 2023Article
- Case report: FOXP1 syndrome caused by aFrontiers in genetics · 2022Article
- FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring.Journal of neurodevelopmental disorders · 2021Review
- FOXP transcription factors in vertebrate brain development, function, and disorders.Wiley interdisciplinary reviews. Developmental biology · 2020Review
- Association of low-frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts.American journal of medical genetics. Part A · 2019Article
- Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1.Scientific reports · 2018Article
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. C syndrome (Opitz C trigonocephaly syndrome) is a rare and genetically heterogeneous condition, characterized by trigonocephaly, craniofacial anomalies and ID. Several different chromosome deletions and and point mutations in distinct genes have been associated with the disease in patients originally diagnosed as Opitz C. By whole exome sequencing we identified a de novo splicing mutation in FOXP1 in a patient, initially diagnosed as C syndrome, who suffers from syndromic intellectual disability with trigonocephaly. The mutation (c.1428 + 1 G > A) promotes the skipping of exon 16, a frameshift and a premature STOP codon (p.Ala450GLyfs*13), as assessed by a minigene strategy. The patient reported here shares speech difficulties, intellectual disability and autistic features with other FOXP1 syndrome patients, and thus the diagnosis for this patient should be changed. Finally, since trigonocephaly has not been previously reported in FOXP1 syndrome, it remains to be proved whether it may be associated with the FOXP1 mutation.
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