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  • Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates

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Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates
  1. D Jeganathan1,*,
  2. R Chodhari1,*,
  3. M Meeks1,†,
  4. O Færoe2,
  5. D Smyth3,
  6. K Nielsen4,
  7. I Amirav5,
  8. A S Luder5,
  9. H Bisgaard6,
  10. R M Gardiner1,
  11. E M K Chung1,
  12. H M Mitchison1
  1. 1Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, UK
  2. 2Landssjukrahusid, Department of Paediatrics, Torshavn, Faroe Island
  3. 3MRC Geneservice, Babraham Bioincubator, Babraham, Cambridge, UK
  4. 4Pulmonary Service, Department of Paediatrics, Righospitalet, National University Hospital, Copenhagen, Denmark
  5. 5Paediatric Pulmonary Unit, Sieff Hospital, Safed, Israel
  6. 6COPSAC Clinical Research Unit, Copenhagen University Hospital, Gentofte, Copenhagen, Denmark
  1. Correspondence to:
 Dr Hannah Mitchison
 Department of Paediatrics and Child Health, Royal Free and University College Medical School, Rayne Building, 5 University Street, London WC1E 6JJ; hmitchisucl.ac.uk

https://doi.org/10.1136/jmg.2003.014084

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    Primary ciliary dyskinesia (PCD; Immotile cilia syndrome; OMIM 242650) is an autosomal recessive disorder resulting from dysmotility of cilia and sperm flagella.1 Cilia and flagella function either to create circulation of fluid over a stationary cell surface or to propel a cell through fluid.2,3 These related structures are highly complex organelles composed of over 200 different polypeptides.4,5 The core or axoneme of cilia and flagella comprises a bundle of microtubules and many associated proteins. The microtubules are formed from α and β tubulin protofilaments and are arranged in a well recognised ‘9+2’ pattern: nine peripheral microtubule doublets in a ring connected around a central pair of microtubules by radial spoke proteins. The peripheral microtubules have dynein motor proteins attached and are connected with each other by nexin links.6–8

    In human beings, ciliated epithelium can be found lining the respiratory tract, including the sinuses and middle ear, the brain ependyma, the female oviduct, and the male vas deferens. Cilia in the respiratory tract play an important part in airway clearance of respiratory secretions. In primary ciliary dyskinesia, impaired mucociliary clearance causes recurrent respiratory tract infections including chronic otitis media, rhinitis, and sinusitus, often leading to permanent lung damage (bronchiectasis).9 Patients are also often subfertile due to sperm tail immotility and immotile oviduct cilia. About half of the patients have defects of laterality, usually complete mirror-image reversal of the left-right axis (situs inversus) and this association is known as Kartagener syndrome (OMIM 244400). The defects in left-right axis determination associated with primary ciliary dyskinesia are proposed to result from dysfunction of the embryonic node monocilia during development.10–12

    Primary ciliary dyskinesia has an incidence of 1 in 20 000 with enrichment in certain populations.9,13 Diagnosis is made on brushings or biopsy …

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    Footnotes

    • ↵* Both authors have contributed equally to the work.

    • ↵† Present address: Neonatal Unit, Leicester General Hospital, Gwendolen Road, Leicester.

    • This work was supported by the Wellcome Trust.

    • Competing interests: none declared.