NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

By E. Tonkin, Tzu-Jou Wang, S. Lisgo, Michael Bamshad, T. Strachan. Nature Genetics, 2004

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Long-range control of gene expression: emerging mechanisms and disruption in disease. (2005, background): “Recently, the human homologue of Nipped-B, NIPBL, was identified as the gene mutated in individuals with Cornelia de Lange syndrome (CDLS [MIM 122470]) (Krantz et al. 2004; Tonkin et al. 2004).”
Cohesin: its roles and mechanisms. (2009, background): “half or more patients with Cornelia de Lange syndrome (CdLS) (20) have mutations in only one allele of the gene encoding human Scc2, known also as Nipbl due to its homology with the fly ortholog Nipped-B (85, 179).”
Control of Embryonic Stem Cell State (2011, background): “…for most cases of Cornelia de Lange syndrome, which is characterized by developmental defects and mental retardation and appears to be the result of misregulation of gene expression rather than chromosome cohesion or mitotic abnormalities (Krantz et al., 2004; Strachan, 2005; Tonkin et al., 2004).”
The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity (2015, background): “[40] and KMT2A, which is known to cause Wiedemann-Steiner Syndrome [41].”