ArticleAmerican journal of human genetics2016
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 1 of them a synthesis that pooled it.
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Who cites it
79 citing papers in PubMed, 1 synthesis or guideline pooled it, 169 citations in OpenAlex.
- Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype-phenotype correlations of all published cases.Molecular biology reports · 2021Pooled it
- Nanopore long-read sequencing facilitates accurate diagnosis of KMT2B-related dystonia.Clinical epigenetics · 2026Article
- Genetic analysis of childhood-onset dystonia-28 caused by a variant (c.5076G>A) in theGlobal medical genetics · 2026Article
- Clinical, imaging and genetic profile of KMT2B-related dystonia: a review of published cases.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Bilateral pallidotomy for DYT-28 generalized primary dystonia in a child: a case report and review of literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Review
- Review
- Novel heterozygous mutation in KMT2B causing an unusual phenotypic presentation: a comprehensive clinical and bioinformatic analysis.Molecular biology reports · 2025Article
- Age-related microbiome metabolites alter RNA splicing and chromatin accessibility in the brain.bioRxiv : the preprint server for biology · 2025Article
- Division of labor among H3K4 methyltransferases defines distinct facets of homeostatic plasticity.Cell reports · 2025Article
- Molecular and clinical aspects of histone-related disorders.Human genomics · 2025Review
- Insights on the Shared Genetic Landscape of Neurodevelopmental and Movement Disorders.Current neurology and neuroscience reports · 2025Review
- Article
- Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool.Clinical epigenetics · 2024Article
- Diffusion imaging genomics provides novel insight into early mechanisms of cerebral small vessel disease.Molecular psychiatry · 2024Article
- Unprecedented Co-occurrence: Identification of a Pathogenic Genetic Variant in the KMT2B Gene in a Wilson Disease Patient with a Pathogenic ATP7B Mutation.Annals of neurosciences · 2024Article
- Novel KMT2B gene mutation in MUC4 positive low-grade fibromyxoid sarcoma.Diagnostic pathology · 2024Article
- Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments.Human mutation · 2024Review
- Diagnostic utility of DNA methylation episignature analysis for early diagnosis of KMT2B-related disorders: case report.Frontiers in genetics · 2024Article
- Detection of Modified Histones from Oral Mucosa of a Patient with DYT-Molecular syndromology · 2023Article
- Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.Human molecular genetics · 2023Review
19 more citing papers are in PubMed but not listed here.
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Authors and funding
15 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Early-onset generalized dystonia represents the severest form of dystonia, a hyperkinetic movement disorder defined by involuntary twisting postures. Although frequently transmitted as a single-gene trait, the molecular basis of dystonia remains largely obscure. By whole-exome sequencing a parent-offspring trio in an Austrian kindred affected by non-familial early-onset generalized dystonia, we identified a dominant de novo frameshift mutation, c.6406delC (p.Leu2136Serfs
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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.