Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes.

doi:10.1038/s41431-020-0679-8

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes.

European journal of human genetics : EJHG - 1 Jan 2021

Di Fede Elisabetta, Massa Valentina, Augello Bartolomeo, Squeo Gabriella, Scarano Emanuela, Perri Anna Maria, Fischetto Rita, Causio Francesco Andrea, Zampino Giuseppe, Piccione Maria, Curridori Elena, Mazza Tommaso, Castellana Stefano, Larizza Lidia, Ghelma Filippo, Colombo Elisa Adele, Gandini Maria Chiara, Castori Marco, Merla Giuseppe, Milani Donatella, Gervasini Cristina

Abstract excerpt

Lysine-specific methyltransferase 2A (KMT2A) is responsible for methylation of histone H3 (K4H3me) and contributes to chromatin remodeling, acting as "writer" of the epigenetic machinery. Mutations in KMT2A were first reported in Wiedemann-Steiner syndrome (WDSTS). More recently, KMT2A variants have been described in probands with a specific clinical diagnosis comprised in the so-called chromatinopathies. Such...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child

Share to Congenital limb and hand anomalies

Share to Histone-Lysine N-Methyltransferase

Share to Mutation

Share to Myeloid-Lymphoid Leukemia Protein

Share to Phenotype

Share to Rubinstein-Taybi Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 32641752
DOI: 10.1038/s41431-020-0679-8
PMCID: PMC7852672

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes.PMID 32641752Read ↗

KMT2A: Umbrella Gene for Multiple Diseases.Semantic proximity Read ↗

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.Semantic proximity Read ↗

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.Semantic proximity Read ↗

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.Semantic proximity Read ↗

Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.Semantic proximity Read ↗

Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome.Semantic proximity Read ↗

KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies.Semantic proximity Read ↗

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.Semantic proximity Read ↗

Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1.Semantic proximity Read ↗

Characterizing the molecular impact of<i>KMT2D</i>variants on the epigenetic and transcriptional landscapes in Kabuki SyndromeSemantic proximity Read ↗

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.Semantic proximity Read ↗

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.