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

PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2019

Cyrus Sharri, Burkardt Deepika, Weaver David D, Gibson William T

Abstract excerpt

The EZH2, EED, and SUZ12 genes encode proteins that comprise core components of the polycomb repressive complex 2 (PRC2), an epigenetic "writer" with H3K27 methyltransferase activity, catalyzing the addition of up to three methyl groups on histone 3 at lysine residue 27 (H3K27). Partial loss-of-function variants in genes encoding the EZH2 and EED subunits of the complex lead to overgrowth, macrocephaly, advanced...

Read the complete abstract on PubMed

Topics

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

Share to Enhancer of Zeste Homolog 2 Protein
Share to Growth Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neoplasm Proteins

Share to Phenotype

Share to Polycomb Repressive Complex 2

Share to Syndrome

Share to Transcription Factors

Source

Identifiers

PMID: 31724824
DOI: 10.1002/ajmg.c.31754

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.PMID 31724824Read ↗

Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty.Semantic proximity Read ↗

Rare SUZ12 variants commonly cause an overgrowth phenotype.Semantic proximity Read ↗

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.Semantic proximity Read ↗

Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome).Semantic proximity Read ↗

From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver SyndromeSemantic proximity Read ↗

Epigenetic Causes of Overgrowth SyndromesSemantic proximity Read ↗

Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity.Semantic proximity Read ↗

Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.Semantic proximity Read ↗

Novel SUZ12 mutations in Weaver-like syndrome.Semantic proximity Read ↗

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?Semantic proximity Read ↗

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disordersSemantic proximity Read ↗

Dominant negative effects on H3K27 methylation by Weaver syndrome-associated EZH2 variantsSemantic proximity Read ↗

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