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. Author manuscript; available in PMC: 2015 Sep 2.
Published in final edited form as: Curr Protoc Pharmacol. 2014 Sep 2;66:5.66.1–5.66.26. doi: 10.1002/0471141755.ph0566s66

Figure 1. The causes of ASDs.

Figure 1

The cause for the majority (>75%) of ASD cases is unknown. Human genetics research and clinical studies have implicated chromosomal copy number variations (CNVs) in ~15% and single gene mutations in ~8% of ASD cases. Recessive mutations in single gene resulting in metabolic disorders account for a small number (<3%) of ASD patients. Mutations in non-metabolic disease related genes, frequently de novo mutations in synaptic genes, account ~5% of ASD cases. Both CNVs and single gene mutations have been associated with syndromic and non-syndromic forms of ASDs.