ArticleJournal of medical genetics2014
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
Article in Journal of medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28 citing papers in PubMed, 41 citations in OpenAlex.
- Chromosome 22q13 terminal deletion size is associated with relevant clinical features in a sample of 63 Italian patients with Phelan-McDermid syndrome.Journal of neurodevelopmental disorders · 2026Article
- Article
- A Boy with a Novel Variant inChildren (Basel, Switzerland) · 2025Article
- Germline mosaicism in TCF20-associated neurodevelopmental disorders: a case study and literature review.Journal of human genetics · 2025Review
- Regulation of Dendrite and Dendritic Spine Formation by TCF20.Journal of neurochemistry · 2025Article
- Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex.Genes · 2024Review
- Identification of the synonymous variant c.3141G > A in TNRC6B gene that altered RNA splicing by minigene assay.Molecular biology reports · 2024Article
- Dystonic Cerebral Palsy-Like Presentation Caused by a Novel TCF20 Variant.Journal of movement disorders · 2024Article
- Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café-au-lait spots, and metabolic abnormality.Molecular genetics & genomic medicine · 2024Article
- TrkB-dependent regulation of molecular signaling across septal cell types.Translational psychiatry · 2024Article
- The genetic landscape of autism spectrum disorder in the Middle Eastern population.Frontiers in genetics · 2024Article
- A syndrome featuring developmental disorder of the nervous system induced by a novel mutation in theFrontiers in genetics · 2023Article
- Diagnosis and clinical presentation of two individuals with a rareBMJ case reports · 2022Article
- Exome-wide screening identifies novel rare risk variants for major depression disorder.Molecular psychiatry · 2022Article
- Review
- Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- TCF20 dysfunction leads to cortical neurogenesis defects and autistic-like behaviors in mice.EMBO reports · 2020Article
- Properties of structural variants and short tandem repeats associated with gene expression and complex traits.Nature communications · 2020Article
- Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Tyrosine aminotransferase is involved in the oxidative stress response by metabolizingThe Journal of biological chemistry · 2019Article
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Authors and funding
16 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundAutism spectrum disorders (ASDs) are common and have a strong genetic basis, yet the cause of ∼70-80% ASDs remains unknown. By clinical cytogenetic testing, we identified a family in which two brothers had ASD, mild intellectual disability and a chromosome 22 pericentric inversion, not detected in either parent, indicating de novo mutation with parental germinal mosaicism. We hypothesised that the rearrangement was causative of their ASD and localised the chromosome 22 breakpoints.
methodsThe rearrangement was characterised using fluorescence in situ hybridisation, Southern blotting, inverse PCR and dideoxy-sequencing. Open reading frames and intron/exon boundaries of the two physically disrupted genes identified, TCF20 and TNRC6B, were sequenced in 342 families (260 multiplex and 82 simplex) ascertained by the International Molecular Genetic Study of Autism Consortium (IMGSAC).
resultsIMGSAC family screening identified a de novo missense mutation of TCF20 in a single case and significant association of a different missense mutation of TCF20 with ASD in three further families. Through exome sequencing in another project, we independently identified a de novo frameshifting mutation of TCF20 in a woman with ASD and moderate intellectual disability. We did not identify a significant association of TNRC6B mutations with ASD.
conclusionsTCF20 encodes a transcriptional coregulator (also termed SPBP) that is structurally and functionally related to RAI1, the critical dosage-sensitive protein implicated in the behavioural phenotypes of the Smith-Magenis and Potocki-Lupski 17p11.2 deletion/duplication syndromes, in which ASD is frequently diagnosed. This study provides the first evidence that mutations in TCF20 are also associated with ASD.
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