Abstract
Copy number variants (CNVs) affecting the NRXN1 gene (NRXN1del) are associated with ASD, intellectual disability/developmental disorder, epilepsy, and other neurodevelopmental symptoms. NRXN1dels belong to the “synaptopathies” group, which are disorders disrupting the synaptic function of genes. Deep phenotyping of NRXN1del carriers could link clinical outcomes to neurobiology and progress biomarker discovery. We are studying carriers as part of the SynaG study, within the AIMS-2-TRIALS study. We use a genotype-first approach to assess if a genetic change is related to a clinical outcome or intermediate phenotype, for example, a cognitive, behavioral, or brain-based difference.
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