ArticleEuropean journal of human genetics : EJHG2016
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 36 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
- 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
- Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.American journal of human genetics · 2025Article
- 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
- Association Between CYP2D7 and TCF20 Polymorphisms and Coronary Heart Disease.Cardiovascular toxicology · 2024Article
- Article
- Diagnosis and clinical presentation of two individuals with a rareBMJ case reports · 2022Article
- Direct Phenotyping and Principal Component Analysis of Type Traits Implicate Novel QTL in Bovine Mastitis through Genome-Wide Association.Animals : an open access journal from MDPI · 2021Article
- Disentangling the determinants of transposable elements dynamics in vertebrate genomes using empirical evidences and simulations.PLoS genetics · 2020Article
- TCF20 dysfunction leads to cortical neurogenesis defects and autistic-like behaviors in mice.EMBO reports · 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
- Whole-genome resequencing reveals genetic indels of feathered-leg traits in domestic chickens.Journal of genetics · 2019Article
- Molecular basis for phenotypic similarity of genetic disorders.Genome medicine · 2019Article
- De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.Genome medicine · 2019Article
- De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.Human genetics · 2018Article
- Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).Journal of medical genetics · 2018Article
- A recurrent de novo missense mutation in UBTF causes developmental neuroregression.Human molecular genetics · 2018Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
Recently, germline variants of the transcriptional co-regulator gene TCF20 have been implicated in the aetiology of autism spectrum disorders (ASD). However, the knowledge about the associated clinical picture remains fragmentary. In this study, two individuals with de novo TCF20 sequence variants were identified in a cohort of 313 individuals with intellectual disability of unknown aetiology, which was analysed by whole exome sequencing using a child-parent trio design. Both detected variants - one nonsense and one frameshift variant - were truncating. A comprehensive clinical characterisation of the patients yielded mild intellectual disability, postnatal tall stature and macrocephaly, obesity and muscular hypotonia as common clinical signs while ASD was only present in one proband. The present report begins to establish the clinical picture of individuals with de novo nonsense and frameshift variants of TCF20 which includes features such as proportionate overgrowth and muscular hypotonia. Furthermore, intellectual disability/developmental delay seems to be fully penetrant amongst known individuals with de novo nonsense and frameshift variants of TCF20, whereas ASD is shown to be incompletely penetrant. The transcriptional co-regulator gene TCF20 is hereby added to the growing number of genes implicated in the aetiology of both ASD and intellectual disability. Furthermore, such de novo variants of TCF20 may represent a novel differential diagnosis in the overgrowth syndrome spectrum.
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Registered trials
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