ArticleEuropean journal of human genetics : EJHG2015
A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
28 citing papers in PubMed.
- Examining Genetic Variants Associated with FOXP1 Syndrome through Molecular Dynamics of Its DNA-Binding Domain and Self-Organizing Maps.Journal of chemical information and modeling · 2026Article
- Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations.Genetics research · 2025Article
- Possible roles of deep cortical neurons and oligodendrocytes in the neural basis of human sociality.Anatomical science international · 2024Review
- Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes.Molecular syndromology · 2023Article
- Case report: Expanding the phenotype ofFrontiers in neurology · 2023Article
- The pale spear-nosed bat: A neuromolecular and transgenic model for vocal learning.Annals of the New York Academy of Sciences · 2022Article
- Article
- The Genetic and Molecular Basis of Developmental Language Disorder: A Review.Children (Basel, Switzerland) · 2022Review
- Neglected, yet significant role of FOXP1 in T-cell quiescence, differentiation and exhaustion.Frontiers in immunology · 2022Review
- Third-generation genome sequencing implicates medium-sized structural variants in chronic schizophrenia.Frontiers in neuroscience · 2022Article
- Autism with dysphasia accompanied by mental retardation caused byWorld journal of clinical cases · 2021Article
- Molecular networks of the FOXP2 transcription factor in the brain.EMBO reports · 2021Review
- FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring.Journal of neurodevelopmental disorders · 2021Review
- Regulatory genes and pathways disrupted in autism spectrum disorders.Progress in neuro-psychopharmacology & biological psychiatry · 2019Review
- Autism spectrum disorders: autistic phenotypes and complicated mechanisms.World journal of pediatrics : WJP · 2019Review
- Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1.Scientific reports · 2018Article
- Mapping the distribution of language related genes FoxP1, FoxP2, and CntnaP2 in the brains of vocal learning bat species.The Journal of comparative neurology · 2018Article
- A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.Scientific reports · 2018Article
- FOXP1 Promotes Embryonic Neural Stem Cell Differentiation by Repressing Jagged1 Expression.Stem cell reports · 2017Article
- Foxp1 in Forebrain Pyramidal Neurons Controls Gene Expression Required for Spatial Learning and Synaptic Plasticity.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
FOXP1 (forkhead box protein P1) is a transcription factor involved in the development of several tissues, including the brain. An emerging phenotype of patients with protein-disrupting FOXP1 variants includes global developmental delay, intellectual disability and mild to severe speech/language deficits. We report on a female child with a history of severe hypotonia, autism spectrum disorder and mild intellectual disability with severe speech/language impairment. Clinical exome sequencing identified a heterozygous de novo FOXP1 variant c.1267_1268delGT (p.V423Hfs*37). Functional analyses using cellular models show that the variant disrupts multiple aspects of FOXP1 activity, including subcellular localization and transcriptional repression properties. Our findings highlight the importance of performing functional characterization to help uncover the biological significance of variants identified by genomics approaches, thereby providing insight into pathways underlying complex neurodevelopmental disorders. Moreover, our data support the hypothesis that de novo variants represent significant causal factors in severe sporadic disorders and extend the phenotype seen in individuals with FOXP1 haploinsufficiency.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.