Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia.

Journal Article (Journal Article)

Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormal ciliary structure and function, impaired mucociliary clearance, and chronic middle ear, sinus, and lung disease. PCD is associated with situs inversus in approximately 50% of the patients. One proposed explanation for this relationship is that normal ciliary function plays a role in normal organ orientation, whereas organ orientation in PCD is a random event because of dysfunctional cilia in early embryonic development. Another hypothesis for the association between PCD and situs inversus is that mutated genes in PCD not only cause defective cilia, but are also linked to the control of organ laterality, such that abnormalities in this molecular pathway result in random left-right asymmetry. We report on a set of monozygotic twin women with PCD. In both patients, deficiency of the inner dynein arms was noted on ciliary ultrastructural analysis, associated with a clinical syndrome of bronchiectasis, chronic sinusitis, and middle ear disease. One of the twins has situs solitus, the other has situs inversus totalis. DNA analysis confirmed that the twins are monozygotic. This is consistent with the hypothesis that situs inversus occurring in patients with primary ciliary dyskinesia is a random but "complete" event in the fetal development of patients with PCD.

Full Text

Duke Authors

Cited Authors

  • Noone, PG; Bali, D; Carson, JL; Sannuti, A; Gipson, CL; Ostrowski, LE; Bromberg, PA; Boucher, RC; Knowles, MR

Published Date

  • January 15, 1999

Published In

Volume / Issue

  • 82 / 2

Start / End Page

  • 155 - 160

PubMed ID

  • 9934981

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/(sici)1096-8628(19990115)82:2<155::aid-ajmg11>3.0.co;2-t


  • eng

Conference Location

  • United States