CohesinopathiesQ87.-

Cohesinopathies (CP) are a group of dysmorphic syndromes whose genetic cause is mutations in components of a multi-protein complex, cohesin.

The best-known representative of CP is Cornelia de Lange syndrome (CdLS). Patients with CdLS show short stature, varying degrees of intelligence impairment, characteristic craniofacial features, and gastroesophogal dysfunction. The highly variable phenotype of CP often makes a clear clinical diagnosis difficult.

To date, mutations have been detected in several genes that form the genetic basis of the defiance of cohesinopathies. These are: NIPBL, SMC1A, SMC3, HDAC8, RAD21.

Other mutations are targets of current researches

1. K. Nasmyth et al. (2005) The structure and function of SMC and kleisin complexes. Annual Review of Biochemistry 74, 595-648
2. Haering CH et al (2008) The cohesin ring concatenates sister DNA molecules. Nature 454: 297-301.
3. McNairn AJ et al. (2008) Cohesinopathies: one ring, many obligations. Mutation Research 647: 103-111