SynthesisBMC medical genetics2015
Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.
Synthesis in BMC medical genetics, 2015. 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, 41 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
- Fetal Kabuki syndrome caused by a novel gene variation in KMT2D with primary carnitine deficiency: a case report.Journal of medical case reports · 2026Article
- Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions.Clinical genetics · 2026Article
- 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
- Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation.Frontiers in pediatrics · 2024Article
- Case report: Macrophage activation syndrome in a patient with Kabuki syndrome.Frontiers in immunology · 2024Article
- Deep structural insights into RNA-binding disordered protein regions.Wiley interdisciplinary reviews. RNA · 2022Review
- Near complete deletion of KMT2D in a college student.American journal of medical genetics. Part A · 2022Article
- Kabuki Syndrome: Identification of Two Novel Variants inMolecular syndromology · 2021Article
- A Novel IntronicThe application of clinical genetics · 2021Article
- Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report.BMC medical genetics · 2020Article
- Caregiver-reported clinical characteristics and the burden associated with Kabuki syndrome.American journal of medical genetics. Part A · 2020Article
- Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.World journal of pediatrics : WJP · 2019Review
- Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.Orphanet journal of rare diseases · 2019Review
- Orofacial features and medical profile of eight individuals with Kabuki syndrome.Medicina oral, patologia oral y cirugia bucal · 2019Article
- Novel heterozygous variants in KMT2D associated with holoprosencephaly.Clinical genetics · 2019Article
- A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.Journal of human genetics · 2019Article
- Dissecting KMT2D missense mutations in Kabuki syndrome patients.Human molecular genetics · 2018Article
- Robust identification of mosaic variants in congenital heart disease.Human genetics · 2018Article
- Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.Scientific reports · 2017Article
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
backgroundKabuki syndrome is a rare hereditary disease affecting multiple organs. The causative genes identified to date are KMT2D and KDMA6. The aim of this study is to evaluate the clinical manifestations and the spectrum of mutations of KMT2D.
methodsWe retrospectively retrieved a series of eight patients from two hospitals in China and conducted Sanger sequencing for all of the patients and their parents if available. We also reviewed the literature and plotted the mutation spectrum of KMT2D.
resultsThe patients generally presented with typical clinical manifestations as previously reported in other countries. Uncommon symptoms included spinal bifida and Dandy-Walker malformation. With respect to the mutations, five mutations were found in five patients, including two frameshift indels, one nonsense mutation and two missense mutations.
conclusionsThis is the first case series on Kabuki syndrome in Mainland China. Unusual symptoms, such as spinal bifida and Dandy-Walker syndrome, suggested that neurological developmental defects may accompany Kabuki syndrome. This case series helps broaden the mutation spectrum of Kabuki syndrome and adds information regarding the manifestations of Kabuki syndrome.
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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.