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Article

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

The Journal of clinical endocrinology and metabolism - 1 Apr 2018

Lui Julian C, Barnes Kevin M, Dong Lijin, Yue Shanna, Graber Evan, Rapaport Robert, Dauber Andrew, Nilsson Ola, Baron Jeffrey

Abstract excerpt

Context: Weaver syndrome is characterized by tall stature, advanced bone age, characteristic facies, and variable intellectual disability. It is caused by heterozygous mutations in enhancer of zeste homolog 2 (EZH2), a histone methyltransferase responsible for histone H3 at lysine 27 (H3K27) trimethylation. However, no early truncating mutations have been identified, suggesting that null mutations do not cause...

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Identifiers

PMID: 29244146
DOI: 10.1210/jc.2017-01948
PMCID: PMC6276576

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity.PMID 29244146Read ↗

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

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 ↗

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