Copy number variation in a follow-up of adults with ASD: a behavioral phenotype-genotype study

Autistic Spectrum Disorders (ASD) are a set of complex, early-onset neurodevelopmental disorders. Recent studies have revealed a complex genetic landscape for ASD, with many potential genes involved. Little is known about the long-term outcome of individuals with ASD who were diagnosed in childhood, and no studies to date have examined genetic correlates of their level of functioning as adults. Copy number variation appears to play an important role in ASD. An increasing number of studies have identified both inherited and de novo copy number variants in ASDs (see Cook & Scherer, 2008 for review). Microarray technology is providing the opportunity for discovery of deletions and insertions across the genome. Here we present an initial exploratory evaluation of copy number variation (CNV) in an ongoing follow-up study of adults with ASD.