ArticleAmerican journal of medical genetics. Part A2020
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 37 citations in OpenAlex.
- First-Trimester Bilateral Choanal Atresia as a Marker of a De Novo Pathogenic KMT2D Variant Associated With BCAHH Syndrome.Prenatal diagnosis · 2026Article
- Fetal Kabuki syndrome caused by a novel gene variation in KMT2D with primary carnitine deficiency: a case report.Journal of medical case reports · 2026Article
- Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.Human molecular genetics · 2026Article
- Severity-stratified genetic diagnosis by trio exome sequencing in isolated fetal growth restriction.Frontiers in genetics · 2026Article
- HNF1B-related diabetes mellitus in a Korean patient with Kabuki syndrome: a case report and literature review.Annals of pediatric endocrinology & metabolism · 2025Article
- Novel Variants and Clinical Heterogeneity in Pediatric Calcium Metabolism Disorders Identified Through High-Yield Tiered Genetic Testing in a Taiwanese Cohort.Medicina (Kaunas, Lithuania) · 2025Article
- Role of Genes in Dens Invaginatus: A Whole Exome Sequencing Study.International journal of clinical pediatric dentistry · 2025Article
- Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Article
- Kabuki and CHARGE syndromes: overlapping symptoms and diagnostic challenges.Einstein (Sao Paulo, Brazil) · 2025Article
- KMT2D preferentially binds mRNAs of the genes it regulates, suggesting a role in RNA processing.Protein science : a publication of the Protein Society · 2024Article
- Clinical and molecular characteristics of Kabuki syndrome patients with missense variants-novel features and literature review.Frontiers in genetics · 2024Article
- Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1.Birth defects research · 2023Review
- Article
- Pulmonary hypertension- a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review.BMC pediatrics · 2023Review
- Perspectives on the future of dysmorphology.American journal of medical genetics. Part A · 2023Article
- High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.European journal of human genetics : EJHG · 2023Article
- Exome/Genome Sequencing in Undiagnosed Syndromes.Annual review of medicine · 2023Review
- c.4168G>A(p.Ala 1390Thr) Variation in KMT2D Gene Detected in an Ultra-treatment-resistant Schizophrenia Patient: A Case Report and Literature Review.Noro psikiyatri arsivi · 2023Article
- Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4).Human molecular genetics · 2022Article
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
Pathogenic variants in KMT2D, which encodes lysine specific methyltransferase 2D, cause autosomal dominant Kabuki syndrome, associated with distinctive dysmorphic features including arched eyebrows, long palpebral fissures with eversion of the lower lid, large protuberant ears, and fetal finger pads. Most disease-causing variants identified to date are putative loss-of-function alleles, although 15-20% of cases are attributed to missense variants. We describe here four patients (including one previously published patient) with de novo KMT2D missense variants and with shared but unusual clinical findings not typically seen in Kabuki syndrome, including athelia (absent nipples), choanal atresia, hypoparathyroidism, delayed or absent pubertal development, and extreme short stature. These individuals also lack the typical dysmorphic facial features found in Kabuki syndrome. Two of the four patients had severe interstitial lung disease. All of these variants cluster within a 40-amino-acid region of the protein that is located just N-terminal of an annotated coiled coil domain. These findings significantly expand the phenotypic spectrum of features associated with variants in KMT2D beyond those seen in Kabuki syndrome and suggest a possible new underlying disease mechanism for these patients.
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