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Cohesinopathies: One ring, many obligations

Adrian J McNairn1, Jennifer L Gerton

  • 1Stowers Institute for Medical Research, Kansas City, MO 64110, USA.

Mutation Research
|September 13, 2008
PubMed

Insights

Genetic disorders Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) are now classified as cohesinopathies. Mutations in cohesin pathway genes like NIPBL and ESCO2 cause these conditions, offering new avenues for research.

Area of Science:

  • Human Genetics
  • Molecular Biology
  • Cell Biology

Background:

  • Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS)/SC Phocomelia (SC) are genetic disorders initially described over 75 years ago.
  • Recent genetic studies link these disorders to the cohesin pathway, essential for chromosome segregation.

Purpose of the Study:

  • To reclassify CdLS and RBS/SC Phocomelia as cohesinopathies based on genetic findings.
  • To highlight the role of cohesin pathway genes in these developmental disorders.

Main Methods:

  • Genetic analysis of patients with CdLS, RBS, and SC Phocomelia.
  • Identification of causative genes within the cohesin pathway.

Main Results:

  • Over 60% of CdLS cases involve de novo mutations in SCC2/NIPBL, SMC1, or SMC3.
  • The gene ESCO2 has been identified as causative for Roberts syndrome and SC Phocomelia.
  • These disorders represent a new class: cohesinopathies.

Conclusions:

  • CdLS and RBS/SC Phocomelia are cohesinopathies resulting from defects in the cohesin complex.
  • Modern genetic, biochemical, and cell biological approaches can elucidate the mechanisms underlying these disorders.

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