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Article

Mutations of schizophrenia risk gene SETD1A dysregulate synaptic function in human neurons.

Molecular psychiatry - 1 Dec 2025

Su Xiao, Zhang Hanwen, Hong Yan, Yang Qian, Wang Le, Le Tiffany, Liu Jiayi, Cheruvu Lasya, Labour Emily, Zhang Siwei, Mendez-Maldonado Karla, Kreimer Anat, Song Hongjun, Ming Guo-Li, Duan Jubao, Pang Zhiping P

Abstract excerpt

Schizophrenia (SCZ) is a complex neuropsychiatric disorder associated with both common risk variants of small effect sizes and rare risk variants of high penetrance. Rare premature open reading frame (ORF) termination variants in SETD1A (SET Domain Containing 1A) show a strong association with SCZ; however, it remains largely unclear how rare premature ORF termination variants in SETD1A contribute to the...

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Identifiers

PMID: 40962831
DOI: 10.1038/s41380-025-03246-z
PMCID: PMC12602330

Genes

SETD1A
SET

Variants

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