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Article

NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome.

Human molecular genetics - 7 Jul 2022

Brennan Kevin, Zheng Hong, Fahrner Jill A, Shin June Ho, Gentles Andrew J, Schaefer Bradley, Sunwoo John B, Bernstein Jonathan A, Gevaert Olivier

Abstract excerpt

Sotos syndrome (SS), the most common overgrowth with intellectual disability (OGID) disorder, is caused by inactivating germline mutations of NSD1, which encodes a histone H3 lysine 36 methyltransferase. To understand how NSD1 inactivation deregulates transcription and DNA methylation (DNAm), and to explore how these abnormalities affect human development, we profiled transcription and DNAm in SS patients and...

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Identifiers

PMID: 35094088
DOI: 10.1093/hmg/ddac026
PMCID: PMC9262396

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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