Article
Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer.
Human mutation - 1 Mar 2015
Narasimhan Vijayashankaranarayanan, Hjeij Rim, Vij Shubha, Loges Niki Tomas, Wallmeier Julia, Koerner-Rettberg Cordula, Werner Claudius, Thamilselvam Surin Kumar, Boey Adrian, Choksi Semil P, Pennekamp Petra, Roy Sudipto, Omran Heymut
Abstract excerpt
In vertebrates, establishment of left-right (LR) asymmetry is dependent on cilia-driven fluid flow within the LR organizer. Mutations in CCDC11 disrupt LR asymmetry in humans, but how the gene functions in LR patterning is presently unknown. We describe a patient with situs inversus totalis carrying homozygous loss-of-function mutations in CCDC11. We show that CCDC11 is an axonemal protein in respiratory cilia,...
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