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Researchers have identified genetic factors that account for only about 10% of nonsyndromic, noninherited mental retardation (MR) cases. Investigators previously found cognitive impairments in mice heterozygous for Syngap1 deletion, involvement of this gene in synaptic pathways involving NMDA receptors, and evidence for dendritic spine abnormalities in MR. Now, researchers have looked for mutations in the human SYNGAP1 gene in 94 patients with nonsyndromic, sporadic MR, 142 with autism spectrum disorder (because most autism cases involve MR), 143 with schizophrenia (because schizophrenia is associated with NMDA pathway abnormalities), and 190 healthy controls.
Patients with MR were excluded if they had any dysmorphic features, complicated bi…