Discover Community Create You

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

Article

Identification of a KDM6A somatic mutation responsible for Kabuki syndrome by excluding a conflicting KMT2D germline variant through episignature analysis.

European journal of medical genetics - 1 Aug 2023

Kawai Tomoko, Iwasaki Yuji, Ogata-Kawata Hiroko, Kamura Hiromi, Nakamura Kazuaki, Hata Kenichiro, Takano Takako, Nakabayashi Kazuhiko

Abstract excerpt

Kabuki syndrome (KS) is a congenital disorder caused by mutations in either KMT2D on chromosome 12 or KDM6A on chromosome X, encoding a lysine methyltransferase and a lysine demethylase, respectively. A 9-year-4-month-old male patient with a normal karyotype presented with KS and autism spectrum disorder. Genetic testing for KS was conducted by Sanger sequencing and episignature analysis using DNA methylation...

Read the complete abstract on PubMed

Topics

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

Share to Autism Spectrum Disorder
Share to Biological Specimen Banks

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Germ Cells

Share to Hematologic Diseases

Share to Histone Demethylases

Share to Vestibular Diseases

Source

Identifiers

PMID: 37379880
DOI: 10.1016/j.ejmg.2023.104806

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a KDM6A somatic mutation responsible for Kabuki syndrome by excluding a conflicting KMT2D germline variant through episignature analysis.PMID 37379880Read ↗

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.Semantic proximity Read ↗

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.Semantic proximity Read ↗

Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.Semantic proximity Read ↗

Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1.Semantic proximity Read ↗

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

Near complete deletion of KMT2D in a college student.Semantic proximity Read ↗

Neonatal Kabuki syndrome caused by KMT2D mutation: A case report.Semantic proximity Read ↗

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.Semantic proximity Read ↗

The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder.Semantic proximity Read ↗

Dissecting KMT2D missense mutations in Kabuki syndrome patients.Semantic proximity Read ↗

Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.Semantic proximity Read ↗

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.Semantic proximity Read ↗

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