ArticleNature genetics2014
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 218 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
218 citing papers in PubMed, 353 citations in OpenAlex.
- Germline and somatic variants in DNMT3A and other clonal haematopoiesis of indeterminate potential genes contribute to pulmonary arterial hypertension.European heart journal · 2026Article
- Multidomain interaction governs the filamentous assembly of the dominant-negative DNMT3A R882H mutant.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Single-cell profiling of DNA methylation in autism spectrum disorder prefrontal cortex reveals distinct regulatory and aging signatures.Cell genomics · 2026Article
- Co-occurrence of low-grade fibromyxoid sarcoma and familial Tatton-Brown-Rahman syndrome with germline DNMT3A c.1904G > A (p.Arg635Gln): a case report.BMC pediatrics · 2026Article
- Review
- Recent Advances in Searching for DNMT Inhibitors and Their Potential Application in Treating Human Diseases.International journal of molecular sciences · 2026Review
- DNA Methylation Dynamics in Development and Disease: Insights from Zebrafish Models.Biomedicines · 2026Review
- Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome.European journal of human genetics : EJHG · 2026Article
- Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures.Clinical epigenetics · 2026Article
- Distinct cellular DNA methylation mechanisms underlie common and rare genetic risk for brain disorders.bioRxiv : the preprint server for biology · 2026Article
- A role of protein conformational dynamics in mammalian DNA methylation.Structural dynamics (Melville, N.Y.) · 2026Review
- LEMONmethyl-seq: Targeted long-read DNA methylation profiling reveals dynamics of CRISPR epigenome editing and endogenous DNA methylation patterns.bioRxiv : the preprint server for biology · 2026Article
- Structural insight into hierarchical DNMT3A autoinhibition and its dysregulation in disease.Nature communications · 2026Article
- Effects of Spin4 ablation in aging mice: body composition, bone density, and malignancy prevalence.bioRxiv : the preprint server for biology · 2026Article
- Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.Pigment cell & melanoma research · 2026Article
- Dental Management of Tatton-Brown-Rahman Syndrome: A Case Report.Case reports in dentistry · 2026Article
- Epigenetic regulators are preferentially coordinated with protocadherin gene expression across the human brain: a genome-wide co-expression analysis.Frontiers in genetics · 2026Article
- Article
- Clinical immunology in chromatinopathies: a scoping review.Frontiers in immunology · 2026Article
- Convergent DNA methylation abnormalities at enhancers and bivalent promoters in human growth disorders.Epigenetics & chromatin · 2025Article
158 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
24 authors at 12 institutions in 6 countries.
Funding
Abstract
Overgrowth disorders are a heterogeneous group of conditions characterized by increased growth parameters and other variable clinical features such as intellectual disability and facial dysmorphism. To identify new causes of human overgrowth, we performed exome sequencing in ten proband-parent trios and detected two de novo DNMT3A mutations. We identified 11 additional de novo mutations by sequencing DNMT3A in a further 142 individuals with overgrowth. The mutations alter residues in functional DNMT3A domains, and protein modeling suggests that they interfere with domain-domain interactions and histone binding. Similar mutations were not present in 1,000 UK population controls (13/152 cases versus 0/1,000 controls; P < 0.0001). Mutation carriers had a distinctive facial appearance, intellectual disability and greater height. DNMT3A encodes a DNA methyltransferase essential for establishing methylation during embryogenesis and is commonly somatically mutated in acute myeloid leukemia. Thus, DNMT3A joins an emerging group of epigenetic DNA- and histone-modifying genes associated with both developmental growth disorders and hematological malignancies.
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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.