CNTNAP2 and Cornelia de Lange syndrome: Other disease-associated genes were similarly identified, including a 12.5 kb inversion in the autism-associated CNTNAP2 gene (Peñagarikano and Geschwind 2012) and a 4.8 kb inversion in SMC1A (linked to rare disease Cornelia de Lange syndrome) (Deardorff et al. 2007) (Dataset 3, available as supplementary data at Bioinformatics online).