ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 39 citations in OpenAlex.
- Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant.Annals of clinical and translational neurology · 2026Article
- Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies.Movement disorders clinical practice · 2026Review
- diffMONT: predicting methylation-specific PCR biomarkers based on nanopore sequencing data for clinical application.Bioinformatics (Oxford, England) · 2026Article
- Current insights into PHF14: molecular features and functional roles.Frontiers in molecular biosciences · 2026Review
- Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays.Clinical genetics · 2025Article
- Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis.Annals of medicine · 2025Article
- 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
- Myoclonus-Dystonia plus Syndrome in a Patient Carrying a Novel TCF20 Variant.Movement disorders clinical practice · 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
- Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.Molecular autism · 2024Article
- Dystonic Cerebral Palsy-Like Presentation Caused by a Novel TCF20 Variant.Journal of movement disorders · 2024Article
- Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome.Clinical genetics · 2024Review
- Identifying genetic loci and phenomic associations of substance use traits: A multi-trait analysis of GWAS (MTAG) study.Addiction (Abingdon, England) · 2023Article
- Updated consensus guidelines on the management of Phelan-McDermid syndrome.American journal of medical genetics. Part A · 2023Review
- DeepGenePrior: A deep learning model for prioritizing genes affected by copy number variants.PLoS computational biology · 2023Article
- 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
Corrections and comments
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Authors and funding
53 authors at 20 institutions in 5 countries.
Funding
Abstract
purposeTo define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients.
methodsPatients were ascertained through molecular testing laboratories performing exome sequencing (and other testing) with orthogonal confirmation; collaborating referring clinicians provided detailed clinical information.
resultsThe cohort of 27 patients all had novel variants, and ranged in age from 2 to 68 years. All had developmental delay/intellectual disability. Autism spectrum disorders/autistic features were reported in 69%, attention disorders or hyperactivity in 67%, craniofacial features (no recognizable facial gestalt) in 67%, structural brain anomalies in 24%, and seizures in 12%. Additional features affecting various organ systems were described in 93%. In a majority of patients, we did not observe previously reported findings of postnatal overgrowth or craniosynostosis, in comparison with earlier reports.
conclusionWe provide valuable data regarding the prognosis and clinical manifestations of patients with variants in TCF20.
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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.