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Article

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

American journal of medical genetics. Part A - 1 Oct 2024

Okamoto Nobuhiko, Yoshida Sayaka, Ogitani Ayako, Etani Yuri, Yanagi Kumiko, Kaname Tadashi

Abstract excerpt

Pathogenic variants of polycomb repressive complex-2 (PRC2) subunits are associated with overgrowth syndromes and neurological diseases. EZH2 is a major component of PRC2 and mediates the methylation of H3K27 trimethylation (H3K27me3). Germline variants of EZH2 have been identified as a cause of Weaver syndrome (WS), an overgrowth/intellectual disability (OGID) syndrome characterized by overgrowth, macrocephaly,...

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Source

Identifiers

PMID: 38814056
DOI: 10.1002/ajmg.a.63726

Genes

EED
SUZ12

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

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Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty.PMID 38814056Read ↗

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

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

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

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

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

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

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

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

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.Semantic proximity Read ↗

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The phenotype of EZH2 haploinsufficiency-1.2-Mb deletion at 7q36.1 in a child with tall stature and intellectual disability.Semantic proximity Read ↗

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