Maternal modifiers and parent-of-origin bias of the autism 16p11.2 CNV

Recurrent deletions and duplications at chromosome 16p11.2 are a major genetic contributor to autism but also associate with a wider range of pediatric diagnoses. In order to investigate the potential genetic basis for phenotype variability, we assessed the parent-of-origin of the 16p11.2 copy number variant (CNV) and the presence of additional CNVs using commercial SNP microarrays in over 100 families where detailed phenotype data were available.
Additional phenotypic and genotypic data is available to approved researchers from the Simons Foundation SFARI Base (https://sfari.org/resources/sfari-base).