ReviewOrphanet journal of rare diseases2019
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.
Review in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review.Journal of human genetics · 2024Pooled it
- Article
- Article
- Immune thrombocytopenia in Kabuki syndrome, a comparison with non-Kabuki cases in the UK paediatric ITP registry.Orphanet journal of rare diseases · 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
- Article
- Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.Diagnostics (Basel, Switzerland) · 2024Article
- A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.European journal of pediatrics · 2024Article
- Clinical and molecular characteristics of Kabuki syndrome patients with missense variants-novel features and literature review.Frontiers in genetics · 2024Article
- Article
- Auricular fistula: a review of its clinical manifestations, genetics, and treatments.Journal of molecular medicine (Berlin, Germany) · 2023Review
- Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH.Orphanet journal of rare diseases · 2023Article
- Fetal Phenotype and Prenatal Diagnosis of Kabuki Syndrome.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2023Article
- Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease.Genes · 2023Article
- Histone H3K27 demethylase KDM6A is an epigenetic gatekeeper of mTORC1 signalling in cancer.Gut · 2022Article
- Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.Frontiers in pediatrics · 2022Article
- NovelWorld journal of clinical cases · 2021Article
- The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective.Cellular and molecular life sciences : CMLS · 2021Review
- A Novel IntronicThe application of clinical genetics · 2021Article
- Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies.Frontiers in cell and developmental biology · 2021Review
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThis study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients.
methodsBlood samples were collected for whole-exome sequencing (WES) for 7 patients and their parents if available. Phenotypic and genotypic spectra of 40 previously published unrelated Chinese KS patients were summarized.
resultGenetic sequencing identified six KMT2D variants (c.3926delC, c.5845delC, c.6595delT, c.12630delG, c.16294C > T, and c.16442delG) and one KDM6A variant (c.2668-2671del). Of them, 4 variants (c.3926delC, c.5845delC, c.12630delG, and c.16442delG) in KMT2D gene and the variant (c.2668-2671del) in KDM6A gene were novel. Combining with previously published Chinese KS cases, the patients presented with five cardinal manifestations including facial dysmorphism, intellectual disability, growth retardation, fingertip pads and skeletal abnormalities. In addition, 29.5% (5/17) patients had brain abnormalities, such as hydrocephalus, cerebellar vermis dysplasia, thin pituitary and white matter myelination delay, corpus callosum hypoplasia and Dandy-Walker malformation.
conclusionIn this report, five novel variants in KMT2D/KDM6A genes are described. A subset of Chinese KS patients presented with brain abnormalities that were not previously reported. Our study expands the mutational and phenotypic spectra of KS.
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