ArticleAmerican journal of human genetics2012
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 183 papers, 2 of them syntheses that pooled it.
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Who cites it
183 citing papers in PubMed, 2 syntheses or guidelines pooled it, 376 citations in OpenAlex.
- Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.BMC medical genetics · 2018Pooled it
- Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.BMC medical genetics · 2015Pooled it
- Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.The Journal of clinical investigation · 2015Trial
- Fetal Kabuki syndrome caused by a novel gene variation in KMT2D with primary carnitine deficiency: a case report.Journal of medical case reports · 2026Article
- Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review.Neurogenetics · 2026Review
- Escape from X inactivation drives sex differences in gene expression.Molecular biology and evolution · 2026Article
- Histone acetylation and methylation in rare diseases: from molecular mechanisms to clinical presentations.Frontiers in cell and developmental biology · 2026Review
- Ophthalmic Manifestations in A Patient With Kabuki Syndrome: A Case Report With a KDM6A Gene Variant.Case reports in ophthalmological medicine · 2026Article
- Article
- Immunoglobulin A Nephropathy in a Kidney Transplant Recipient with Kabuki Syndrome.Internal medicine (Tokyo, Japan) · 2025Article
- An iPSC-based model of 47,XYY Jacobs syndrome reveals a DNA methylation-independent transcriptional dysregulation shared with male X aneuploid cells.Genome research · 2025Article
- Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses.The Journal of clinical endocrinology and metabolism · 2025Article
- Clinical delineation and genotype-phenotype correlation in 104 children with kabuki syndrome: A single-center, cross-sectional and follow-up study in China.European journal of pediatrics · 2025Article
- Molecular Regulation of Palatogenesis and Clefting: An Integrative Analysis of Genetic, Epigenetic Networks, and Environmental Interactions.International journal of molecular sciences · 2025Review
- Extremely Low Birth Weight Infant (Gestational Age of 29 Weeks) With Kabuki Syndrome Type I: Case Report and Literature Review.Molecular genetics & genomic medicine · 2024Review
- Clinical and molecular characteristics of Korean patients with Kabuki syndrome.Journal of human genetics · 2024Article
- Genetic and Phenotypic Spectrum ofDiagnostics (Basel, Switzerland) · 2024Article
- DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.European journal of human genetics : EJHG · 2024Article
- De Novo Pathogenic Variant inGenes · 2024Review
- Review
123 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Kabuki syndrome (KS) is a rare genetic disease that causes developmental delay and congenital anomalies. Since the identification of MLL2 mutations as the primary cause of KS, such mutations have been identified in 56%-76% of affected individuals, suggesting that there may be additional genes associated with KS. Here, we describe three KS individuals with de novo partial or complete deletions of an X chromosome gene, KDM6A, that encodes a histone demethylase that interacts with MLL2. Although KDM6A escapes X inactivation, we found a skewed X inactivation pattern, in which the deleted X chromosome was inactivated in the majority of the cells. This study identifies KDM6A mutations as another cause of KS and highlights the growing role of histone methylases and histone demethylases in multiple-congenital-anomaly and intellectual-disability syndromes.
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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.