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Dinu Antony, Anita Becker-Heck, Maimoona A. Zariwala, Miriam Schmidts, Alexandros Onoufriadis, Mitra Forouhan, Robert Wilson, Theresa Taylor-Cox, Ann Dewar, Claire Jackson, Patricia Goggin, Niki T. Loges, Heike Olbrich, Martine Jaspers, Mark Jorissen, Margaret W. Leigh, Whitney E. Wolf, M. Leigh Anne Daniels, Peadar G. Noone, Thomas W. Ferkol, Scott D. Sagel, Margaret Rosenfeld, Andrew Rutman, Abhijit Dixit, Christopher O'Callaghan, Jane S. Lucas, Claire Hogg, Peter J. Scambler, Richard D. Emes, UK10K, Eddie M.K. Chung, Amelia Shoemark, Michael R. Knowles, Heymut Omran and Hannah M. Mitchison Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms Human Mutation 34

Version of Record online: 11 FEB 2013 | DOI: 10.1002/humu.22261

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Around 12% of patients with primary ciliary dyskinesia (PCD), a recessively inherited ciliopathy caused by cilia/sperm dysmotility, have perturbed 9+2 microtubule cilia structure and inner dynein arm (IDA) loss. We find that biallelic CCDC39 and CCDC40 mutations cause 69% of this defect (37/54 families). We report 25 (19 novel) mutant alleles all causing predicted “null” alleles, with 73% homozygous mutations (27/37 families) including a major putative hotspot mutation, CCDC40 c.248delC. We propose the renaming this disorder to “IDA and microtubular disorganisation defect”.

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