Article
SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases.
Progress in neuro-psychopharmacology & biological psychiatry - 8 Feb 2024
Colijn Mark A, Carrion Prescilla, Poirier-Morency Guillaume, Rogic Sanja, Torres Ivan, Menon Mahesh, Lisonek Michelle, Cook Courtney, DeGraaf Ashley, Thammaiah Subramanya Ponnachana, Neelakant Harish, Willaeys Veerle, Leonova Olga, White Randall F, Yip Stephen, Mungall Andrew J, MacLeod Patrick M, Gibson William T, Sullivan Patrick F, Honer William G, Pavlidis Paul, Stowe Robert M
Abstract excerpt
OBJECTIVE: SETD1A encodes a histone methyltransferase involved in various cell cycle regulatory processes. Loss-of-function SETD1A variants have been associated with numerous neurodevelopmental phenotypes, including intellectual disability and schizophrenia. While the association between rare coding variants in SETD1A and schizophrenia has achieved genome-wide significance by rare variant burden testing, only a...
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