SynthesisBMC medical genetics2018
Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.
Synthesis in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
- Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions.Clinical genetics · 2026Article
- Genetic etiology and pregnancy outcomes of fetal hyperechoic kidneys: a retrospective analysis.Frontiers in pediatrics · 2025Article
- Case Report: Area of focus clinical presentation and KMT2D gene mutation at the c.15535C>T site in a case of Kabuki syndrome.Frontiers in genetics · 2025Article
- Article
- Review
- Case report: A study on theFrontiers in pediatrics · 2022Article
- Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.European journal of pediatrics · 2022Review
- Epigenetic interaction between UTX and DNMT1 regulates diet-induced myogenic remodeling in brown fat.Nature communications · 2021Article
- Association of Kabuki syndrome and tethered cord syndrome: a report of three cases and literature review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Review
- Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report.BMC medical genetics · 2020Article
- Article
- Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.Orphanet journal of rare diseases · 2019Review
- Chromatin-Remodeled State in Lymphoma.Current hematologic malignancy reports · 2019Review
- A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.BMC medical genetics · 2018Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundKabuki syndrome (KS) is a rare pediatric congenital disorder with multiple congenital anomalies and intellectual disabilities, which is inherited in an autosomal dominant manner. Mutations in KMT2D and KDM6A have been proven to be the primary cause in most cases of KS. CASE PRESENTATION: Here we report two Chinese boys with clinical features of KS referred to our hospital for clinical diagnosis. Next-generation sequencing was performed on MiSeq to analyze the genetic mutations in both patients. In both, two novel de novo mutations in KMT2D gene (c.5235delA, p.(A1746Lfs*39) and c.7048G > A, p.(Q2350*)) were detected, both of which were subsequently confirmed by the two-generation pedigree analysis based on Sanger sequencing. A systematic literature review of previously reported mutational spectrum of KMT2D was also conducted.
conclusionsTwo novel de novo mutations in KMT2D gene were identified and considered to be pathogenic in both of KS patients. Our data adds information to the growing knowledge on the mutational spectrum of KS.
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