2. Academic Validation
  3. Cohesin embraces new phenotypes

Cohesin embraces new phenotypes

  • Nat Genet. 2014 Nov;46(11):1157-8. doi: 10.1038/ng.3123.
Ian D Krantz 1
Affiliations

Affiliation

  • 1 Division of Human Molecular Genetics, The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
PMID: 25352100 DOI: 10.1038/ng.3123
Abstract

A new study identifies homozygous missense mutations in SGOL1, which encodes a component of the cohesin complex, in a newly described disorder termed Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome. These findings implicate cohesin in the regulation of intrinsic cardiac and intestinal rhythm and further expand the growing group of disorders termed the cohesinopathies.

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