Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms. Issue 3 (11th February 2013)

• Record Type: Journal Article
• Authors: 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.; UK10K, ; Chung, Eddie M.K.; Shoemark, Amelia; Knowles, Michael R.; Omran, Heymut; Mitchison, Hannah M.;
• Is Part Of: Human mutation. Volume 34:Issue 3(2013:Mar.)
• Page Start: 462
• Page End: 472
• Publication Date: 2013-02-11
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22261
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22261-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>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 <italic>CCDC39</italic> and <italic>CCDC40</italic> 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". <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg1tt8dj3p" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>