ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2013
The NSD1 and EZH2 overgrowth genes, similarities and differences.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 78 citations in OpenAlex.
- Dominant-negative effects of Weaver syndrome-associated EZH2 variants.Genes & development · 2025Article
- A Patient Case of Malan Syndrome Involving 19p13.2 Deletion ofJournal of clinical medicine · 2024Article
- Epigenetic Causes of Overgrowth Syndromes.The Journal of clinical endocrinology and metabolism · 2024Review
- The SWI/SNF Complex: A Frequently Mutated Chromatin Remodeling Complex in Cancer.Cancer treatment and research · 2023Article
- Non-canonical functions of EZH2 in cancer.Frontiers in oncology · 2023Review
- Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant ofFrontiers in genetics · 2023Article
- Review
- NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome.Human molecular genetics · 2022Article
- The spectrum of genetic mutations in myelodysplastic syndrome: Should we update prognostication?EJHaem · 2022Review
- Article
- H3K36 methyltransferase NSD1 regulates chondrocyte differentiation for skeletal development and fracture repair.Bone research · 2021Article
- Chromatin dysregulation associated with NSD1 mutation in head and neck squamous cell carcinoma.Cell reports · 2021Article
- Diagnostic Approach to Macrocephaly in Children.Frontiers in pediatrics · 2021Review
- CRISPR/Cas9-mediated knockout of NSD1 suppresses the hepatocellular carcinoma development via the NSD1/H3/Wnt10b signaling pathway.Journal of experimental & clinical cancer research : CR · 2019Article
- Tracking longitudinal genetic changes of circulating tumor DNA (ctDNA) in advanced Lung adenocarcinoma treated with chemotherapy.Journal of translational medicine · 2019Article
- PRC2 functions in development and congenital disorders.Development (Cambridge, England) · 2019Review
- Histone H3 tail binds a unique sensing pocket in EZH2 to activate the PRC2 methyltransferase.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.Molecular syndromology · 2018Review
- NSD1 inactivation defines an immune cold, DNA hypomethylated subtype in squamous cell carcinoma.Scientific reports · 2017Article
- Pseudoacromegaly: A Differential Diagnostic Problem for Acromegaly With a Genetic Solution.Journal of the Endocrine Society · 2017Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
NSD1 and EZH2 are SET domain-containing histone methyltransferases that play key roles in the regulation of transcription through histone modification and chromatin modeling: NSD1 preferentially methylates lysine residue 36 of histone 3 (H3K36) and is primarily associated with active transcription, while EZH2 shows specificity for lysine residue 27 (H3K27) and is associated with transcriptional repression. Somatic dysregulation of NSD1 and EZH2 have been associated with tumorigenesis. NSD1, as a fusion transcript with NUP98, plays a key role in leukemogenesis, particularly childhood acute myeloid leukemia. EZH2 is a major proto-oncogene and mono- and biallelic activating and inactivating somatic mutations occur as early events in the development of tumors, particularly poor prognosis hematopoietic malignancies. Constitutional NSD1 and EZH2 mutations cause Sotos and Weaver syndromes respectively, overgrowth syndromes with considerable phenotypic overlap. NSD1 mutations that cause Sotos syndrome are loss-of-function, primarily truncating mutations or missense mutations at key residues in functional domains. EZH2 mutations that cause Weaver syndrome are primarily missense variants and the rare truncating mutations reported to date are in the last exon, suggesting that simple haploinsufficiency is unlikely to be generating the overgrowth phenotype although the exact mechanism has not yet been determined. Many additional questions about the molecular and clinical features of NSD1 and EZH2 remain unanswered. However, studies are underway to address these and, as more cases are ascertained and technology improves, it is hoped that these will, in time, be answered.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.