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Article

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.

Human genetics - 1 Jan 2018

Hiraide Takuya, Nakashima Mitsuko, Yamoto Kaori, Fukuda Tokiko, Kato Mitsuhiro, Ikeda Hiroko, Sugie Yoko, Aoto Kazushi, Kaname Tadashi, Nakabayashi Kazuhiko, Ogata Tsutomu, Matsumoto Naomichi, Saitsu Hirotomo

Abstract excerpt

SETD1B (SET domain containing 1B) is a component of SET1 histone methyltransferase complex, which mediates the methylation of histone H3 on lysine 4 (H3K4). Here, we describe two unrelated individuals with de novo variants in SETD1B identified by trio-based whole exome sequencing: c.5524C>T, p.(Arg1842Trp) and c.5575C>T, p.(Arg1859Cy). The two missense variants occurred at evolutionarily conserved amino acids and...

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Source

Identifiers

PMID: 29322246
DOI: 10.1007/s00439-017-1863-y

Genes

SET

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.PMID 29322246Read ↗

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