Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm

  title={Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm},
  author={Philippe M Chetaille and Christoph Preuss and Silja Barbara Burkhard and Jean-Marc C{\^o}t{\'e} and Christine Houde and Julie Castilloux and Jessica Pich{\'e} and Natacha Gosset and S{\'e}verine Leclerc and Florian W{\"u}nnemann and Maryse Thibeault and Carmen Gagnon and Antonella Galli and Elizabeth P Tuck and Gilles R. X. Hickson and Nour El Amine and In{\`e}s Boufaied and Emmanuelle Lemyre and Pascal de Santa Barbara and Sandrine Faure and Anders Jonzon and Michel Cameron and Harry C Dietz and Elena Gallo-McFarlane and D. Woodrow Benson and Claudia Moreau and Damian Labuda and Shing Hei Zhan and Yaoqing Shen and Mich{\`e}le Jomphe and Steven J. M. Jones and Jeroen Bakkers and Gregor U. Andelfinger},
  journal={Nature Genetics},
The pacemaking activity of specialized tissues in the heart and gut results in lifelong rhythmic contractions. Here we describe a new syndrome characterized by Chronic Atrial and Intestinal Dysrhythmia, termed CAID syndrome, in 16 French Canadians and 1 Swede. We show that a single shared homozygous founder mutation in SGOL1, a component of the cohesin complex, causes CAID syndrome. Cultured dermal fibroblasts from affected individuals showed accelerated cell cycle progression, a higher rate of… CONTINUE READING
Related Discussions
This paper has been referenced on Twitter 69 times. VIEW TWEETS


Publications citing this paper.
Showing 1-10 of 27 extracted citations

Genetics of enteric neuropathies.

Developmental biology • 2016
View 4 Excerpts
Highly Influenced


Publications referenced by this paper.
Showing 1-10 of 55 references

Mutant cohesin in premature ovarian failure.

The New England journal of medicine • 2014

variation in meiosis, across genomes, and in populations

Thompson, E. A. Identity by descent
Genetics 194, 301–326 • 2013

Identification and functional characterization of cardiac pacemaker cells in zebrafish

F Tessadori
PLoS ONE 7, • 2012

Similar Papers

Loading similar papers…