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

@article{Chetaille2014MutationsIS,
  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},
  year={2014},
  volume={46},
  pages={1245-1249}
}
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
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