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Article

19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression.

Clinical genetics - 1 Jan 2012

Lehman A M, du Souich C, Chai D, Eydoux P, Huang J L, Fok A K, Avila L, Swingland J, Delaney A D, McGillivray B, Goldowitz D, Argiropoulos B, Kobor M S, Boerkoel C F

Abstract excerpt

Up to 90% of individuals affected by Sotos syndrome have a pathogenic alteration of NSD1 (encodes nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1), a histone methyltransferase that functions as both a transcriptional activator and a repressor. Genomic copy numbe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21204797
DOI: 10.1111/j.1399-0004.2010.01615.x

Genes

NSD1
DNMT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21204797-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression.PMID 21204797Read ↗

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Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?Semantic proximity Read ↗

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Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.Semantic proximity Read ↗

The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?Semantic proximity Read ↗

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