Article
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.
Nature genetics - 1 Nov 2014
Chetaille Philippe, Preuss Christoph, Burkhard Silja, Côté Jean-Marc, Houde Christine, Castilloux Julie, Piché Jessica, Gosset Natacha, Leclerc Séverine, Wünnemann Florian, Thibeault Maryse, Gagnon Carmen, Galli Antonella, Tuck Elizabeth, Hickson Gilles R, El Amine Nour, Boufaied Ines, Lemyre Emmanuelle, de Santa Barbara Pascal, Faure Sandrine, Jonzon Anders, Cameron Michel, Dietz Harry C, Gallo-McFarlane Elena, Benson D Woodrow, Moreau Claudia, Labuda Damian, Zhan Shing H, Shen Yaoqing, Jomphe Michèle, Jones Steven J M, Bakkers Jeroen, Andelfinger Gregor
Abstract excerpt
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...
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