Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders

Original research article by E.M. Kenny et al. (2014)

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Over 400 people with schizophrenia (SZ) and autism spectrum disorder (ASD) were screened for gene changes in 215 possible risk genes. A change in GRIN2B was identified to be de novo (not inherited from either parent) in a sample from a person with autism. Based on this result and previously reported cases, it is suggested that gene changes in GRIN2B can increase the chance for autism and can contribute to brain function and learning differences.