Central microtubular agenesis causing primary ciliary dyskinesia.
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.
Stannard
Wendy
W
Division of Child Health, Institute of Lung Health, Department of Infection, Immunity, and Inflammation, University of Leicester, UK.
Rutman
Andrew
A
Wallis
Colin
C
O'Callaghan
Chris
C
D018912:Arabs / Q000235:genetics; D001706:Biopsy; D001987:Bronchiectasis / Q000235:genetics; D002648:Child; D003241:Consanguinity; D003371:Cough / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007223:Infant; D007619:Kartagener Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008854:Microscopy, Electron; D008870:Microtubules / Q000648:ultrastructure*; D009079:Mucociliary Clearance; D001261:Pulmonary Atelectasis / Q000235:genetics; D012141:Respiratory Tract Infections / Q000235:genetics; D012220:Rhinitis / Q000235:genetics; D012857:Situs Inversus / Q000235:genetics; D014057:Tomography, X-Ray Computed; D014479:United Arab Emirates