High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.

10 In recent years, the development of DNA microarray technologies has revealed that submicroscopic deletions and duplications of DNA, known as copy number variants (CNVs), may be significant in autism susceptibility. 11 , 12 , 13 , 14 Recent surveys identified a higher rate of de novo CNVs in autism pedigrees compared to controls, with the increased rate becoming more exaggerated in singleton than in multiplex families. 10 , 12 , 13 Nevertheless, it remains difficult to interpret the significance of the numerous CNVs identified in ASDs, to distinguish those that influence susceptibility from normal polymorphic variation and to understand how they might interact with other genetic and non-genetic factors.

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