A Delicate Balance: CYFIP1 Dosage Drives Divergent Phenotypes

Abstract

Genomic copy number variants (CNVs) that result in altered gene dosage have emerged as an important risk factor for neuropsychiatric disorders such as autism spectrum disorder (ASD) and schizophrenia (SCZ). Interestingly, patients harboring deletions or duplications of the same genomic region can present with shared and unique clinical phenotypes (1). One such example is at the 15q11.2 locus, which is associated with neurocognitive phenotypes including developmental delay, intellectual disability, and motor impairments.