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Article

SETD1B-associated neurodevelopmental disorder.

Journal of medical genetics - 1 Mar 2021

Roston Alexandra, Evans Dan, Gill Harinder, McKinnon Margaret, Isidor Bertrand, Cogné Benjamin, Mwenifumbo Jill, van Karnebeek Clara, An Jianghong, Jones Steven J M, Farrer Matthew, Demos Michelle, Connolly Mary, Gibson William T

Abstract excerpt

BACKGROUND: Dysfunction of histone methyltransferases and chromatin modifiers has been implicated in complex neurodevelopmental syndromes and cancers. SETD1B encodes a lysine-specific methyltransferase that assists in transcriptional activation of genes by depositing H3K4 methyl marks. Previous reports of patients with rare variants in SETD1B describe a distinctive phenotype that includes seizures, global...

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Identifiers

PMID: 32546566
DOI: 10.1136/jmedgenet-2019-106756

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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