Article
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Human mutation - 1 Mar 2013
Antony Dinu, Becker-Heck Anita, Zariwala Maimoona A, Schmidts Miriam, Onoufriadis Alexandros, Forouhan Mitra, Wilson Robert, Taylor-Cox Theresa, Dewar Ann, Jackson Claire, Goggin Patricia, Loges Niki T, Olbrich Heike, Jaspers Martine, Jorissen Mark, Leigh Margaret W, Wolf Whitney E, Daniels M Leigh Anne, Noone Peadar G, Ferkol Thomas W, Sagel Scott D, Rosenfeld Margaret, Rutman Andrew, Dixit Abhijit, O'Callaghan Christopher, Lucas Jane S, Hogg Claire, Scambler Peter J, Emes Richard D, Chung Eddie M K, Shoemark Amelia, Knowles Michael R, Omran Heymut, Mitchison Hannah M
Abstract excerpt
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder caused by cilia and sperm dysmotility. About 12% of cases show perturbed 9+2 microtubule cilia structure and inner dynein arm (IDA) loss, historically termed "radial spoke defect." We sequenced CCDC39 and CCDC40 in 54 "radial spoke defect" families, as these are the two genes identified so far to cause this defect. We discovered biallelic...
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