NIPBL and Cornelia de Lange syndrome: In humans, mutation in the NIPBL gene results in the rare Cornelia de Lange syndrome (CdLS) (Krantz et al. 2004; Tonkin et al. 2004), a dominant autosomal disorder, affecting ~1:10,000 live born children and characterised by multiple organ system abnormalities, typical facial features, growth and mental retardation, upper limb defects and numerous other features (McNairn and Gerton 2008).