Weaver Syndrome (MIM 277590) — Comprehensive Disease Characteristics Report

Target Disease

• Disease name: Weaver syndrome (WS) (gibson2012mutationsinezh2 pages 1-3, tatton‐brown2013weaversyndromeand pages 1-2)
• Category: Mendelian (autosomal dominant overgrowth/intellectual disability syndrome) (kendirdemirkol2024expandingthephenotypic pages 1-2, gibson2012mutationsinezh2 pages 1-3)
• MONDO ID: Not identified in the retrieved primary texts used for this report (limitation of current tool-retrieved corpus).

Summary (current understanding)

Weaver syndrome is a rare congenital anomaly/overgrowth syndrome characterized by pre- and/or postnatal generalized overgrowth, markedly advanced bone age (accelerated osseous maturation), characteristic craniofacial gestalt (e.g., hypertelorism, broad forehead, retrognathia with “stuck-on” chin crease), and variable developmental delay/intellectual disability (gibson2012mutationsinezh2 pages 1-3, tatton‐brown2013weaversyndromeand pages 3-4). Since 2011–2012, heterozygous germline pathogenic variants in EZH2 (encoding the catalytic subunit of Polycomb Repressive Complex 2, PRC2) have been established as the primary cause (tattonbrown2011germlinemutationsin pages 1-2, gibson2012mutationsinezh2 pages 1-3).

Recent mechanistic work (2024–2025) supports that many WS-associated EZH2 missense alleles can act through dominant-negative interference with PRC2, producing global reductions in H3K27me2/3, increases in H3K27ac, and chromatin decompaction (deevy2024dominantnegativeeffects pages 1-2, deevy2025dominantnegativeeffectsof pages 1-2). A 2024 knock-in mouse model (Ezh2 p.R684C) recapitulates skeletal overgrowth/excess osteogenesis and demonstrates pharmacologic reversibility of osteogenic phenotypes by inhibiting the opposing H3K27 demethylases KDM6A/KDM6B (gao2024amousemodel pages 1-2).

1. Disease Information

1.1 Concise overview

Weaver syndrome (MIM 277590) was originally described in 1974 and is now recognized as an EZH2-related overgrowth syndrome with characteristic craniofacial features and variable intellectual disability (tatton‐brown2013weaversyndromeand pages 1-2, gibson2012mutationsinezh2 pages 1-3).

Primary literature abstract quote (2011 discovery): - “Weaver syndrome is a human overgrowth condition characterised by tall stature, dysmorphic facial features, learning disability and variable additional features.” (Tatton-Brown et al., 2011; published 2011-12-21; URL: https://doi.org/10.18632/oncotarget.385) (tattonbrown2011germlinemutationsin pages 1-2)

1.2 Key identifiers (from retrieved sources)

• OMIM/MIM disease: Weaver syndrome MIM 277590 (Gibson et al., AJHG, 2012-01-13; DOI: 10.1016/j.ajhg.2011.11.018; URL: https://doi.org/10.1016/j.ajhg.2011.11.018) (gibson2012mutationsinezh2 pages 1-3)
• Causal gene: EZH2 (Enhancer of Zeste Homolog 2) (gibson2012mutationsinezh2 pages 1-3)
• EZH2 gene identifier: MIM #601573 (Cohen et al., Human Mutation, published online 2015-12-23; DOI: 10.1002/humu.22946; URL: https://doi.org/10.1002/humu.22946) (cohen2016weaversyndrome‐associatedezh2 pages 1-2)

Not found in retrieved texts: ICD-10/ICD-11 codes, MeSH terms, MONDO ID.

1.3 Synonyms / alternative names

• “EZH2-related overgrowth syndrome” (descriptor used in contemporary literature) (kendirdemirkol2024expandingthephenotypic pages 1-2)

1.4 Evidence provenance (individual vs aggregated)

• Aggregated cohort-level phenotyping is available from the large EZH2-mutation positive series (n=48) (Tatton-Brown et al., 2013) (tatton‐brown2013weaversyndromeand pages 1-2), and from mechanistic/biomarker studies that aggregate multiple WS cases (Choufani et al., 2020) (choufani2020dnamethylationsignature pages 1-2).
• Many additional details come from individual case reports/series and experimental models (e.g., Gao et al., 2024 mouse model) (gao2024amousemodel pages 1-2).

2. Etiology

2.1 Disease causal factors

Primary cause (genetic): heterozygous germline pathogenic variants in EZH2 (gibson2012mutationsinezh2 pages 1-3, tattonbrown2011germlinemutationsin pages 1-2). - Gibson et al. used trio-based whole-exome sequencing and identified de novo EZH2 mutations, concluding “mutations in EZH2 cause Weaver syndrome” (AJHG, 2012-01-13; URL: https://doi.org/10.1016/j.ajhg.2011.11.018) (gibson2012mutationsinezh2 pages 1-3).

2.2 Risk factors

• For this Mendelian disorder, the dominant “risk factor” is carrying a pathogenic EZH2 variant; most cases are sporadic/de novo, with rare familial autosomal dominant transmission (tattonbrown2011germlinemutationsin pages 1-2, gibson2012mutationsinezh2 pages 1-3).

2.3 Protective factors / gene–environment interactions

• No protective genetic variants or gene–environment interactions were identified in the retrieved primary literature for Weaver syndrome specifically.

3. Phenotypes (with suggested HPO terms)

3.1 Core phenotype spectrum and frequencies

The best quantitative frequencies in the retrieved corpus come from Tatton-Brown et al. (2013), an EZH2-positive cohort (tatton‐brown2013weaversyndromeand pages 3-4). Key findings: - Tall stature (postnatal height ≥ +2 SD): 41/45 (91%) (tatton‐brown2013weaversyndromeand pages 3-4) - Intellectual disability/developmental delay: 37/45 (82%); often mild (21/37 mild) (tatton‐brown2013weaversyndromeand pages 3-4) - Camptodactyly/contractures: 45% (tatton‐brown2013weaversyndromeand pages 3-4) - Soft/doughy skin: 49% (tatton‐brown2013weaversyndromeand pages 3-4) - Umbilical hernia: 43% (tatton‐brown2013weaversyndromeand pages 3-4) - Hoarse, low-pitched cry: 37% (tatton‐brown2013weaversyndromeand pages 3-4) - Poor coordination/clumsiness: 28/35 (80%) (tatton‐brown2013weaversyndromeand pages 3-4) - Hypotonia: 44%; hypertonia: 28% (tatton‐brown2013weaversyndromeand pages 3-4)

Birth metrics in the same cohort: - Birth length > +2 SD: 12/18 - Birth weight > +2 SD: 15/39 (38%) (tatton‐brown2013weaversyndromeand pages 3-4)

Craniofacial gestalt is described as sometimes subtle and age-dependent but classically includes hypertelorism, broad forehead, almond-shaped palpebral fissures, large fleshy ears in early childhood, retrognathia, and a pointed “stuck-on” chin with a horizontal crease (tatton‐brown2013weaversyndromeand pages 3-4).

3.2 Suggested HPO terms (examples; not exhaustive)

Below are phenotype-to-HPO suggestions aligned to the retrieved descriptions: - Overgrowth / tall stature: Tall stature (HP:0000098) (tatton‐brown2013weaversyndromeand pages 3-4) - Prenatal overgrowth/macrosomia: Large for gestational age (HP:0001520) (supported by prenatal/postnatal overgrowth descriptions) (gibson2012mutationsinezh2 pages 1-3) - Macrocephaly: Macrocephaly (HP:0000256) (gibson2012mutationsinezh2 pages 1-3, tatton‐brown2013weaversyndromeand pages 3-4) - Advanced bone age: Advanced bone age (HP:0005616) (gibson2012mutationsinezh2 pages 1-3) - Intellectual disability: Intellectual disability (HP:0001249) (tatton‐brown2013weaversyndromeand pages 3-4) - Hypotonia: Hypotonia (HP:0001252); Hypertonia: Hypertonia (HP:0001276) (tatton‐brown2013weaversyndromeand pages 3-4) - Hypertelorism: Hypertelorism (HP:0000316) (gibson2012mutationsinezh2 pages 1-3) - Retrognathia/micrognathia: Retrognathia (HP:0000278) (gibson2012mutationsinezh2 pages 1-3) - Camptodactyly: Camptodactyly (HP:0012385) (tatton‐brown2013weaversyndromeand pages 3-4) - Umbilical hernia: Umbilical hernia (HP:0001537) (tatton‐brown2013weaversyndromeand pages 3-4) - Hoarse cry: Hoarse cry (HP:0001609) (tatton‐brown2013weaversyndromeand pages 3-4) - Clumsiness/coordination: Motor delay / impaired coordination (e.g., HP:0002311 for abnormal coordination) (tatton‐brown2013weaversyndromeand pages 3-4)

3.3 Quality of life impact

Formal QoL instruments were not reported in the retrieved sources; however, developmental delay/intellectual disability (82%), hypotonia/hypertonia, and contractures/camptodactyly plausibly affect function and require early intervention/therapy (tatton‐brown2013weaversyndromeand pages 3-4).

4. Genetic / Molecular Information

4.1 Causal gene(s)

• EZH2 is the primary causal gene for classic Weaver syndrome (gibson2012mutationsinezh2 pages 1-3, tattonbrown2011germlinemutationsin pages 1-2).
• PRC2-related overlapping overgrowth syndromes exist for EED and SUZ12; these are clinically overlapping OGID syndromes and share a peripheral blood DNAm signature with WS (gao2024amousemodel pages 1-2, choufani2020dnamethylationsignature pages 1-2).

4.2 Pathogenic variants (types and examples)

• Variant spectrum is predominantly missense and many cases are de novo (tattonbrown2011germlinemutationsin pages 1-2, tatton‐brown2013weaversyndromeand pages 1-2).
• Truncating variants are uncommon and in the Tatton-Brown 2013 cohort were only identified in the final exon after the SET domain (tatton‐brown2013weaversyndromeand pages 1-2).
• A recurrent hotspot variant p.Arg684Cys (R684C) is described in early discovery cohorts and used for model organism work (tattonbrown2011germlinemutationsin pages 1-2, gao2024amousemodel pages 1-2).

4.3 Functional consequences (LoF vs dominant-negative)

Canonical EZH2/PRC2 function: EZH2 is the catalytic subunit of PRC2 and mediates methylation of histone H3 lysine 27 (H3K27), which is linked to chromatin compaction and repression (cohen2016weaversyndrome‐associatedezh2 pages 1-2, choufani2020dnamethylationsignature pages 1-2).

In vitro LoF evidence: Cohen et al. report WS-associated EZH2 amino-acid changes reduce EZH2 histone methyltransferase function in an in vitro PRC2 assay (DOI: 10.1002/humu.22946; published online 2015-12-23) (cohen2016weaversyndrome‐associatedezh2 pages 1-2).

Recent (2024–2025) dominant-negative model: Deevy et al. modeled 10 WS-associated EZH2 variants in isogenic ESCs and found global reductions in H3K27me2/3, increased H3K27ac, and chromatin decompaction consistent with dominant-negative interference with PRC2 activity (preprint posted 2023-06-01, cited here in 2024 posting; URL: https://doi.org/10.1101/2023.06.01.543208) (deevy2024dominantnegativeeffects pages 1-2). The peer-reviewed extension similarly concludes “dominant-negative interference” and reports derepression of weak Polycomb-bound growth control genes (Genes & Development, 2025-08; URL: https://doi.org/10.1101/gad.351884.124) (deevy2025dominantnegativeeffectsof pages 1-2).

4.4 Epigenetic information / DNA methylation episignatures

Choufani et al. reported a highly specific and sensitive peripheral-blood DNA methylation (DNAm) signature for EZH2/WS and showed it can distinguish LoF vs GoF missense variants and detect mosaicism (AJHG, 2020-05-07; DOI: 10.1016/j.ajhg.2020.03.008; URL: https://doi.org/10.1016/j.ajhg.2020.03.008) (choufani2020dnamethylationsignature pages 1-2).

Abstract quote (2020): - “Using genome-wide DNA methylation (DNAm) data… pathogenic variants in EZH2 generate a highly specific and sensitive DNAm signature … [that] can be used to distinguish loss-of-function from gain-of-function missense variants and to detect somatic mosaicism.” (choufani2020dnamethylationsignature pages 1-2)

A 2024 perspective emphasizes clinical use of DNAm signatures for VUS classification and warns that classifier scores should be complemented with additional analyses (Human Genetics; published online 2023-04-06; DOI: 10.1007/s00439-023-02544-2; URL: https://doi.org/10.1007/s00439-023-02544-2) (awamleh2024dnamethylationsignatures pages 1-2).

5. Environmental Information

No specific environmental contributors, lifestyle factors, or infectious triggers for Weaver syndrome were identified in the retrieved primary literature; the disorder is primarily monogenic (EZH2) (gibson2012mutationsinezh2 pages 1-3).

6. Mechanism / Pathophysiology

6.1 Causal chain (genotype → epigenome → transcription → phenotype)

1. Trigger: Heterozygous pathogenic EZH2 missense variants (often de novo) (tattonbrown2011germlinemutationsin pages 1-2, gibson2012mutationsinezh2 pages 1-3).
2. Primary molecular lesion: Reduced and/or dominantly perturbed PRC2 catalytic activity altering H3K27 methylation balance (H3K27me2/3 depleted; H3K27ac increased), with chromatin decompaction and derepression of Polycomb-regulated gene sets (deevy2024dominantnegativeeffects pages 1-2, deevy2025dominantnegativeeffectsof pages 1-2).
3. Downstream tissue programs: In bone, dysregulated osteoblast differentiation and BMP pathway programs contribute to advanced bone age/skeletal overgrowth (gao2024amousemodel pages 1-2).
4. Clinical manifestations: Overgrowth/tall stature, advanced bone age, craniofacial phenotype, neurodevelopmental impairment (tatton‐brown2013weaversyndromeand pages 3-4, gibson2012mutationsinezh2 pages 1-3).

6.2 Pathways/processes implicated

• Polycomb repression / chromatin organization: PRC2-mediated H3K27 methylation and downstream PRC1 recruitment (chromatin compaction) (deevy2024dominantnegativeeffects pages 1-2).
• Bone morphogenetic protein (BMP) pathway and osteoblast differentiation: dysregulated in Ezh2R684C/+ osteoblasts by RNA-seq (gao2024amousemodel pages 1-2).

6.3 Suggested GO biological process terms (examples)

• Histone H3-K27 methylation (GO:0051568)
• Chromatin organization (GO:0006325)
• Transcriptional regulation by Polycomb group proteins (broadly captured under chromatin silencing terms)
• Osteoblast differentiation (GO:0001649)
• BMP signaling pathway (GO:0030509)

6.4 Suggested cell types (CL terms; examples)

• Osteoblast (CL:0000062) and mesenchymal stem/stromal cell (MSC)-like populations (bone marrow MSCs) are mechanistically implicated in the mouse model (gao2024amousemodel pages 1-2).

7. Anatomical Structures Affected

7.1 Organ/system level (with suggested UBERON terms)

• Skeletal system / bone (advanced bone age; skeletal overgrowth) (UBERON:0001434 “skeleton”) (gibson2012mutationsinezh2 pages 1-3, gao2024amousemodel pages 1-2)
• Brain / nervous system (developmental delay, variable intellectual disability) (UBERON:0000955 “brain”) (tatton‐brown2013weaversyndromeand pages 3-4)
• Craniofacial structures (distinct facial gestalt, retrognathia/chin crease) (UBERON craniofacial terms as appropriate) (tatton‐brown2013weaversyndromeand pages 3-4)

7.2 Tissue/cell level

• Bone-forming lineages: osteoblasts and bone marrow MSC-derived osteoblast differentiation programs (gao2024amousemodel pages 1-2).

7.3 Subcellular level

• Nucleus / chromatin (PRC2 is a chromatin-modifying complex; H3K27 modifications regulate compaction) (deevy2024dominantnegativeeffects pages 1-2, choufani2020dnamethylationsignature pages 1-2).

8. Temporal Development

• Onset: commonly prenatal and/or early postnatal overgrowth (gibson2012mutationsinezh2 pages 1-3, tatton‐brown2013weaversyndromeand pages 3-4).
• Course: overgrowth is often present from birth/early childhood; facial features may become more subtle with age, complicating adult recognition (tatton‐brown2013weaversyndromeand pages 1-2, tatton‐brown2013weaversyndromeand pages 3-4).

9. Inheritance and Population

9.1 Inheritance

• Primarily de novo, but autosomal dominant inheritance is supported by rare parent-to-child transmission (gibson2012mutationsinezh2 pages 1-3, tattonbrown2011germlinemutationsin pages 1-2).

9.2 Epidemiology

Robust prevalence/incidence estimates were not found in the retrieved primary texts used here. Available quantitative statements are limited to reported-case counts in specific publications (e.g., “Approximately 40 cases are known from the literature” in 2012; and “48 individuals with EZH2 mutations” in a 2013 cohort) (gibson2012mutationsinezh2 pages 1-3, tatton‐brown2013weaversyndromeand pages 1-2).

10. Diagnostics

10.1 Clinical recognition and differential diagnosis

Clinical overlap with Sotos syndrome is emphasized; distinguishing features for Weaver syndrome include retrognathia with prominent chin crease (“stuck-on” chin), increased prenatal growth, and a carpal bone age disproportionately advanced relative to metacarpal/phalangeal bone age (gibson2012mutationsinezh2 pages 1-3).

10.2 Genetic testing approaches (current practice reflected in literature)

• Trio-based WES and confirmatory Sanger sequencing were used in the discovery paper to identify de novo EZH2 variants (gibson2012mutationsinezh2 pages 1-3).
• Chromosomal microarray (CMA) was used to exclude submicroscopic CNVs in discovery cases, and NSD1 sequencing was performed to exclude Sotos-like etiologies (gibson2012mutationsinezh2 pages 1-3).

10.3 Omics-based diagnostics: DNA methylation episignatures (real-world implementation)

• Clinical implementation concept: DNAm episignatures are used as syndrome-specific biomarkers and are “well established… especially for the classification of variants of uncertain significance (VUS)” (Awamleh et al., Human Genetics; published online 2023-04-06) (awamleh2024dnamethylationsignatures pages 1-2).
• Weaver/PRC2-specific evidence: an EZH2 DNAm signature for WS supports functional classification of EZH2 variants and can also classify variants in EED and SUZ12 (Choufani et al., AJHG 2020-05-07) (choufani2020dnamethylationsignature pages 1-2).

11. Outcome / Prognosis

Quantitative long-term outcomes (life expectancy, validated QoL, survival curves) were not present in the retrieved primary literature. Available evidence supports: - Intellectual disability is common but “highly variable and frequently mild” in the large 2013 series (tatton‐brown2013weaversyndromeand pages 1-2). - Clinical management is typically supportive and multidisciplinary (no disease-modifying therapy established in humans in the retrieved literature) (gao2024amousemodel pages 1-2).

12. Treatment

12.1 Current applications / real-world implementations (supportive care)

Disease management in the retrieved sources is largely symptomatic and supportive; MDEMs in general “still only consist of symptomatic management and preventative screening for known complications” (Gao et al., JCI Insight, 2024-01-09) (gao2024amousemodel pages 1-2).

Suggested MAXO terms (examples): - Genetic testing (MAXO term for genetic diagnostic procedure; mapping depends on MAXO version) - Physical therapy / occupational therapy / speech therapy (supportive developmental therapies) - Orthopedic management (for contractures/camptodactyly)

12.2 Experimental / emerging therapeutics (preclinical)

A key 2024 advance is a genetically faithful mouse model for the common EZH2 p.R684C variant, which shows excess osteogenesis reversible by inhibiting KDM6A/KDM6B (gao2024amousemodel pages 1-2).

Abstract quote (2024 JCI Insight): - “Inhibition of the opposing H3K27 demethylases KDM6A and KDM6B substantially reversed the excessive osteogenesis…” (Gao et al., 2024-01-09; DOI: 10.1172/jci.insight.173392; URL: https://doi.org/10.1172/jci.insight.173392) (gao2024amousemodel pages 1-2)

This provides a mechanistic rationale for considering epigenetic modulating agents in PRC2-related overgrowth disorders, though there is no clinical trial evidence for such agents in Weaver syndrome in the retrieved clinicaltrials.gov search results.

13. Prevention

Primary prevention is not applicable for a monogenic, typically de novo disorder. Practical prevention focuses on: - Genetic counseling for recurrence risk and reproductive planning (autosomal dominant; most de novo) (tattonbrown2011germlinemutationsin pages 1-2, gibson2012mutationsinezh2 pages 1-3). - Secondary/tertiary prevention via anticipatory guidance and monitoring for complications (developmental supports; orthopedic issues; malignancy vigilance) (tatton‐brown2013weaversyndromeand pages 3-4).

14. Other Species / Natural Disease

No naturally occurring veterinary Weaver-syndrome analogs were identified in the retrieved texts.

15. Model Organisms

A 2024 knock-in mouse model of the common EZH2 p.R684C variant demonstrates: - molecular phenotype (global H3K27me3 depletion in homozygous MEFs), - organismal phenotype (skeletal overgrowth in heterozygotes), - cellular phenotype (increased osteogenic activity), - pathway dysregulation (BMP pathway and osteoblast differentiation transcriptome changes), - and pharmacologic reversibility (KDM6A/6B inhibition) (gao2024amousemodel pages 1-2).

Cancer risk and surveillance (expert opinion and recent consensus)

A 2024 AACR Childhood Cancer Predisposition Workshop update notes Weaver syndrome is associated with germline EZH2 variants and reports multiple cancers including neuroblastoma, germ cell tumors, leukemias, and lymphomas; neuroblastoma is described as the most common reported tumor type among Weaver cases (Clinical Cancer Research, 2024-06; DOI: 10.1158/1078-0432.CCR-24-0237; URL: https://doi.org/10.1158/1078-0432.ccr-24-0237) (kamihara2024neuroblastomapredispositionand pages 1-2). The same source describes a threshold framework for recommending neuroblastoma surveillance (≥1% neuroblastoma prevalence among carriers or segregation in multiple pedigrees) but the provided excerpt does not state a finalized surveillance recommendation for Weaver syndrome (kamihara2024neuroblastomapredispositionand pages 1-2).

Structured disease tables (identifiers and phenotypic frequencies)

Table: These tables summarize key disease identifiers and nomenclature for Weaver syndrome and compile core clinical features with reported frequencies, prioritizing Tatton-Brown 2013 and Kendir-Demirkol 2024. They are useful for rapid knowledge-base extraction of ontology-ready identifiers, inheritance, and phenotype prevalence.

Key limitations of this report (based on tool-accessible full text)

• MONDO/ICD/MeSH identifiers were not present in the retrieved texts used here.
• Prevalence/incidence estimates were not found; available data are mainly reported-case counts and cohort sizes.
• PMIDs were not retrievable from the tool outputs for several papers; DOIs/URLs and publication dates are provided where available in-text.

References

1. (gibson2012mutationsinezh2 pages 1-3): William T. Gibson, Rebecca L. Hood, Shing Hei Zhan, Dennis E. Bulman, Anthony P. Fejes, Richard Moore, Andrew J. Mungall, Patrice Eydoux, Riyana Babul-Hirji, Jianghong An, Marco A. Marra, David Chitayat, Kym M. Boycott, David D. Weaver, and Steven J.M. Jones. Mutations in ezh2 cause weaver syndrome. The American Journal of Human Genetics, 90:110-118, Jan 2012. URL: https://doi.org/10.1016/j.ajhg.2011.11.018, doi:10.1016/j.ajhg.2011.11.018. This article has 346 citations.

2. (tatton‐brown2013weaversyndromeand pages 1-2): Katrina Tatton‐Brown, Anne Murray, Sandra Hanks, Jenny Douglas, Ruth Armstrong, Siddharth Banka, Lynne M. Bird, Carol L. Clericuzio, Valerie Cormier‐Daire, Tom Cushing, Frances Flinter, Marie‐Line Jacquemont, Shelagh Joss, Esther Kinning, Sally Ann Lynch, Alex Magee, Vivienne McConnell, Ana Medeira, Keiichi Ozono, Michael Patton, Julia Rankin, Debbie Shears, Marleen Simon, Miranda Splitt, Volker Strenger, Kyra Stuurman, Clare Taylor, Hannah Titheradge, Lionel Van Maldergem, I. Karen Temple, Trevor Cole, Sheila Seal, and Nazneen Rahman. Weaver syndrome and ezh2 mutations: clarifying the clinical phenotype. American Journal of Medical Genetics Part A, 161:2972-2980, Dec 2013. URL: https://doi.org/10.1002/ajmg.a.36229, doi:10.1002/ajmg.a.36229. This article has 181 citations.

3. (kendirdemirkol2024expandingthephenotypic pages 1-2): Yasemin Kendir-Demirkol, Burcu Yeter, and Laura A. Jenny. Expanding the phenotypic and genotypic spectrum of weaver syndrome: a missense variant of the ezh2 gene. Molecular Syndromology, 15:161-166, Sep 2024. URL: https://doi.org/10.1159/000533733, doi:10.1159/000533733. This article has 5 citations and is from a peer-reviewed journal.

4. (tatton‐brown2013weaversyndromeand pages 3-4): Katrina Tatton‐Brown, Anne Murray, Sandra Hanks, Jenny Douglas, Ruth Armstrong, Siddharth Banka, Lynne M. Bird, Carol L. Clericuzio, Valerie Cormier‐Daire, Tom Cushing, Frances Flinter, Marie‐Line Jacquemont, Shelagh Joss, Esther Kinning, Sally Ann Lynch, Alex Magee, Vivienne McConnell, Ana Medeira, Keiichi Ozono, Michael Patton, Julia Rankin, Debbie Shears, Marleen Simon, Miranda Splitt, Volker Strenger, Kyra Stuurman, Clare Taylor, Hannah Titheradge, Lionel Van Maldergem, I. Karen Temple, Trevor Cole, Sheila Seal, and Nazneen Rahman. Weaver syndrome and ezh2 mutations: clarifying the clinical phenotype. American Journal of Medical Genetics Part A, 161:2972-2980, Dec 2013. URL: https://doi.org/10.1002/ajmg.a.36229, doi:10.1002/ajmg.a.36229. This article has 181 citations.

5. (tattonbrown2011germlinemutationsin pages 1-2): Katrina Tatton-Brown, Sandra Hanks, Elise Ruark, Anna Zachariou, Silvana Del Vecchio Duarte, Emma Ramsay, Katie Snape, Anne Murray, Elizabeth R Perdeaux, Sheila Seal, Chey Loveday, Siddharth Banka, Carol Clericuzio, Frances Flinter, Alex Magee, Vivienne McConnell, Michael Patton, Wolfgang Raith, Julia Rankin, Miranda Splitt, Volker Strenger, Clare Taylor, Patricia Wheeler, I Karen Temple, Trevor Cole, Jenny Douglas, and Nazneen Rahman. Germline mutations in the oncogene ezh2 cause weaver syndrome and increased human height. Oncotarget, 2:1127-1133, Dec 2011. URL: https://doi.org/10.18632/oncotarget.385, doi:10.18632/oncotarget.385. This article has 195 citations.

6. (deevy2024dominantnegativeeffects pages 1-2): Orla Deevy, Craig Monger, Francesca Matrà, Ellen Tuck, Eric Conway, Mihaly Badonyi, Darragh Nimmo, Simona Rodighiero, Qi Zhang, Chen Davidovich, Joseph A. Marsh, Diego Pasini, and Adrian P. Bracken. Dominant negative effects on h3k27 methylation by weaver syndrome-associated ezh2 variants. bioRxiv, May 2024. URL: https://doi.org/10.1101/2023.06.01.543208, doi:10.1101/2023.06.01.543208. This article has 5 citations.

7. (deevy2025dominantnegativeeffectsof pages 1-2): Orla Deevy, Jingjing Li, Craig Monger, Francesca Matrà, Ellen Tuck, Molly Davies, Mihaly Badonyi, Maeve Boyce, Emma J. Doyle, Karsten Hokamp, Darragh Nimmo, Simona Rodighiero, Qi Zhang, Chen Davidovich, Joseph A. Marsh, Diego Pasini, Eric Conway, and Adrian P. Bracken. Dominant-negative effects of weaver syndrome-associated ezh2 variants. Genes & Development, 39:1355-1376, Aug 2025. URL: https://doi.org/10.1101/gad.351884.124, doi:10.1101/gad.351884.124. This article has 7 citations and is from a highest quality peer-reviewed journal.

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