This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Stannard, W. Articles by O'Callaghan, C. Search for Related Content PubMed PubMed Citation Articles by Stannard, W. Articles by O'Callaghan, C.

Central Microtubular Agenesis Causing Primary Ciliary Dyskinesia

Division of Child Health, Institute of Lung Health, Department of Infection, Immunity, and Inflammation, University of Leicester, Leicester; and Great Ormond Street Hospital for Children, London, United Kingdom

Correspondence and requests for reprints should be addressed to Chris O'Callaghan, F.R.C.P., F.R.C.P.C.H., D.M., Ph.D., Division of Child Health, Institute of Lung Health, Department of Infection, Immunity, and Inflammation, University of Leicester, Robert Kilpatrick Clinical Sciences Building, PO Box 65, Leicester Royal Infirmary, Leicester LE2 7LX, UK. E-mail: ajb64{at}le.ac.uk

ABSTRACT

Primary ciliary dyskinesia is an autosomal recessive disorder characterized by chronic upper and lower respiratory tract symptoms. We report the diagnosis of primary ciliary dyskinesia associated with a circular ciliary beat pattern in three siblings. This beat pattern is consistent with a ciliary transposition defect, where a peripheral microtubule doublet is transposed to the center of the ciliary axoneme to replace the absent central microtubule pair. However, in these siblings, ultrastructural analysis of the cilia revealed an absence of the central microtubule pair only. This variant of transposition with a circular ciliary beat pattern has not been described previously. In addition, this defect, together with the transposition defect, may help explain the mechanism of the circular beat pattern and also the absence of situs inversus in these patients.

Key Words: ciliary motility disorders • primary ciliary dyskinesia • bronchiectasis • respiratory epithelium • cilia

This article has been cited by other articles:

				A. Fernandez-Gonzalez, S. Kourembanas, T. A. Wyatt, and S. A. Mitsialis Mutation of Murine Adenylate Kinase 7 Underlies a Primary Ciliary Dyskinesia Phenotype Am. J. Respir. Cell Mol. Biol., March 1, 2009; 40(3): 305 - 313. [Abstract] [Full Text] [PDF]

				K.-F. Lechtreck, P. Delmotte, M. L. Robinson, M. J. Sanderson, and G. B. Witman Mutations in Hydin impair ciliary motility in mice J. Cell Biol., February 6, 2008; 180(3): 633 - 643. [Abstract] [Full Text] [PDF]

				L. Lee, D. R. Campagna, J. L. Pinkus, H. Mulhern, T. A. Wyatt, J. H. Sisson, J. A. Pavlik, G. S. Pinkus, and M. D. Fleming Primary Ciliary Dyskinesia in Mice Lacking the Novel Ciliary Protein Pcdp1 Mol. Cell. Biol., February 1, 2008; 28(3): 949 - 957. [Abstract] [Full Text] [PDF]

				A. Bush, R. Chodhari, N. Collins, F. Copeland, P. Hall, J. Harcourt, M. Hariri, C. Hogg, J. Lucas, H. M Mitchison, et al. Primary ciliary dyskinesia: current state of the art Arch. Dis. Child., December 1, 2007; 92(12): 1136 - 1140. [Abstract] [Full Text] [PDF]

				M. J. Wargo, E. E. Dymek, and E. F. Smith Calmodulin and PF6 are components of a complex that localizes to the C1 microtubule of the flagellar central apparatus J. Cell Sci., October 15, 2005; 118(20): 4655 - 4665. [Abstract] [Full Text] [PDF]

				B. Nemery, W. W. Yew, R. Albert, C. Brun-Buisson, W. MacNee, F. J. Martinez, D. C. Angus, and E. Abraham Tuberculosis, Nontuberculous Lung Infection, Pleural Disorders, Pulmonary Function, Respiratory Muscles, Occupational Lung Disease, Pulmonary Infections, and Social Issues in AJRCCM in 2004 Am. J. Respir. Crit. Care Med., March 15, 2005; 171(6): 554 - 562. [Full Text] [PDF]