Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.

doi:10.1038/ng.2961

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Article

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.

Nature genetics - 1 Jun 2014

Wallmeier Julia, Al-Mutairi Dalal A, Chen Chun-Ting, Loges Niki Tomas, Pennekamp Petra, Menchen Tabea, Ma Lina, Shamseldin Hanan E, Olbrich Heike, Dougherty Gerard W, Werner Claudius, Alsabah Basel H, Köhler Gabriele, Jaspers Martine, Boon Mieke, Griese Matthias, Schmitt-Grohé Sabina, Zimmermann Theodor, Koerner-Rettberg Cordula, Horak Elisabeth, Kintner Chris, Alkuraya Fowzan S, Omran Heymut

Abstract excerpt

Using a whole-exome sequencing strategy, we identified recessive CCNO (encoding cyclin O) mutations in 16 individuals suffering from chronic destructive lung disease due to insufficient airway clearance. Respiratory epithelial cells showed a marked reduction in the number of multiple motile cilia (MMC) covering the cell surface. The few residual cilia that correctly expressed axonemal motor proteins were motile...

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PMID: 24747639
DOI: 10.1038/ng.2961

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CCNO

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