Article

A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in <i>NSD2</i>

2022-02-25

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> NSD2 dimethylates histone H3 at lysine 36 (H3K36me2) and is located in the Wolf-Hirschhorn syndrome (WHS) region. Recent descriptions delineated loss-of-function (LoF) variants in NSD2 with a distinct disorder. The oncogenic missense variant p.Glu1099Lys occures somatically in leukemia and has a gain-of-function (GoF) effect. <h4>Methods</h4> We describe two unrelated individuals...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 75f23518-9b2d-54e0-8e90-f218196b24a9
DOI: 10.1101/2022.02.23.22271353

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in <i>NSD2</i>DOI 10.1101/2022.02.23.22271353Read

DNA methylation signature in <i>NSD2</i> loss-of-function variants appeared similar to that in Wolf-Hirschhorn syndromeSemantic proximity Read

Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch-Steindl Syndrome.Semantic proximity Read

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.Semantic proximity Read

The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy.Semantic proximity Read

From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature.Semantic proximity Read

A germline SETD2 variant and malignant phyllodes tumor: extending the spectrum of SETD2-related tumor predispositionSemantic proximity Read

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.Semantic proximity Read

Clinical Insights Into a Rare SETD2 Disorder: Report of a Novel Variant.Semantic proximity Read

Global chromatin profiling reveals NSD2 mutations in pediatric acute lymphoblastic leukemia.Semantic proximity Read

De novo variants in<i>KDM2A</i>cause a syndromic neurodevelopmental disorderSemantic proximity Read

<i>De novo EHMT2</i> variants cause an autosomal dominant <i>EHMT2</i> -related Kleefstra syndrome via loss of G9a methyltransferase activitySemantic proximity Read

Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report.Semantic proximity Read