ArticleJournal of human genetics2019
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
Article in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 24 citations in OpenAlex.
- Mosaicism for Cohen-Gibson Syndrome in a Female Individual With Overgrowth and Neurodevelopmental Delay.Molecular genetics & genomic medicine · 2026Article
- Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism.NPJ genomic medicine · 2026Article
- Article
- Functional analysis of human EED variants using Drosophila.Genetics · 2025Article
- Article
- The epigenetic state of EED-Gli3-Gli1 regulatory axis controls embryonic cortical neurogenesis.Stem cell reports · 2022Article
- Article
- EED-mediated histone methylation is critical for CNS myelination and remyelination by inhibiting WNT, BMP, and senescence pathways.Science advances · 2020Article
- PRC2 functions in development and congenital disorders.Development (Cambridge, England) · 2019Review
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
Variants have been identified in the embryonic ectoderm development (EED) gene in seven patients with syndromic overgrowth similar to that observed in Weaver syndrome. Here, we present three additional patients with missense variants in the EED gene. All the missense variants reported to date (including the three presented here) have localized to one of seven WD40 domains of the EED protein, which are necessary for interaction with enhancer of zeste 2 polycomb repressive complex 2 subunit (EZH2). In addition, among the seven patients reported in the literature and the three new patients presented here, all of the reported pathogenic variants except one occurred at one of four amino acid residues in the EED protein. The recurrence of pathogenic variation at these loci suggests that these residues are functionally important (mutation hotspots). In silico modeling and calculations of the free energy changes resulting from these variants suggested that they not only destabilize the EED protein structure but also adversely affect interactions between EED, EZH2, and/or H3K27me3. These cases help demonstrate the mechanism(s) by which apparently deleterious variants in the EED gene might cause overgrowth and lend further support that amino acid residues in the WD40 domain region may be mutation hotspots.
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Registered trials
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