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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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Autistic Disorder
Chromosome Deletion
Chromosomes, Human, Pair 12
Craniofacial Abnormalities
Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Histone-Lysine N-Methyltransferase

Intellectual Disability

Source

Identifiers

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

Genes

SET

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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