ArticleOrphanet journal of rare diseases2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Article in Orphanet journal of rare diseases, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 98 citations in OpenAlex.
- Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.BMC medical genetics · 2015Pooled it
- Role of histone-lysine N-methyltransferase 2D (KMT2D) in MEK-ERK signaling-mediated epigenetic regulation: a phosphoproteomics perspective.Frontiers in bioinformatics · 2025Article
- Article
- MLL4 binds TET3.Structure (London, England : 1993) · 2024Article
- Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.Diagnostics (Basel, Switzerland) · 2024Article
- SETting up the genome: KMT2D and KDM6A genomic function in the Kabuki syndrome craniofacial developmental disorder.Birth defects research · 2023Review
- Pulmonary hypertension- a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review.BMC pediatrics · 2023Review
- Near complete deletion of KMT2D in a college student.American journal of medical genetics. Part A · 2022Article
- Reprogramming of the epigenome in neurodevelopmental disorders.Critical reviews in biochemistry and molecular biology · 2022Review
- Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.European journal of pediatrics · 2022Review
- Case report: A study on theFrontiers in pediatrics · 2022Article
- Mechanism for DPY30 and ASH2L intrinsically disordered regions to modulate the MLL/SET1 activity on chromatin.Nature communications · 2021Article
- Review
- Kabuki Syndrome: Identification of Two Novel Variants inMolecular syndromology · 2021Article
- The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology.Development (Cambridge, England) · 2020Article
- KMT2C/D COMPASS complex-associated diseases [KClinical epigenetics · 2020Review
- Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Salzmann nodular degeneration features in a case of Kabuki make-up syndrome.BMJ case reports · 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
Corrections and comments
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Authors and funding
41 authors at 20 institutions in 3 countries.
Funding
Abstract
backgroundKabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause.
methodsGenomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. The putative causal and possible functional effect of each nucleotide variant identified was estimated by in silico prediction tools.
resultsWe identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site.
conclusionsThis study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification of a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecular mechanisms underlying this disease, establish genotype-phenotype correlations and improve clinical management.
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