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Article

5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.

Human genetics - 1 Apr 2021

Quintero-Rivera Fabiola, Eno Celeste C, Sutanto Christine, Jones Kelly L, Nowaczyk Małgorzata J M, Wong Derek, Earl Dawn, Mirzaa Ghayda, Beck Anita, Martinez-Agosto Julian A

Abstract excerpt

PURPOSE: Nuclear receptor binding SET domain protein 1, NSD1, encodes a histone methyltransferase H3K36. NSD1 is responsible for the phenotype of the reciprocal 5q35.2q35.3 microdeletion-microduplication syndromes. We expand the phenotype and demonstrate the functional role of NSD1 in microduplication 5q35 syndrome. METHODS: Through an international collaboration, we report nine new patients, contributing to the...

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Identifiers

PMID: 33389145
DOI: 10.1007/s00439-020-02240-5
PMCID: PMC8733961

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