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Genotype-phenotype correlations in PCD patients carrying DNAH5 mutations
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  1. A Kispert1,
  2. M Petry1,
  3. H Olbrich2,
  4. A Volz2,
  5. U-P Ketelsen2,
  6. J Horvath2,
  7. R Melkaoui2,
  8. H Omran2,
  9. M Zariwala3,
  10. P G Noone3,
  11. M Knowles3
  1. 1Medizinische Hochschule Hannover, Germany
  2. 2Department of Pediatrics and Adolescent Medicine, Freiburg, Germany
  3. 3University of North Carolina at Chapel Hill, NC-27599, USA
  1. Correspondence to:
    Dr H Omran, Department of Pediatrics and Adolescent Medicine, Mathildenstrasse 1, 79106 Freiburg, Germany;
    omran{at}kikli.ukl.uni-freiburg.de

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Primary ciliary dyskinesia (PCD) is usually inherited as an autosomal recessive disorder. Affected individuals suffer from recurrent infections of the upper and lower respiratory tract due to reduced mucociliary clearance. Half of the affected offspring exhibit a complete situs inversus because of randomisation of left-right body asymmetry.1,2 The PCD phenotype results from axonemal abnormalities in cilia and flagella. Total or partial absence of dynein arms are found in 70–80% of PCD cases.3

PCD represents a heterogeneous group of genetic disorders. Distinct PCD loci have been mapped to chromosome 9p13-p21 (DNAI1), 19q13.3-qter and 5p15-p14, respectively.4–6 We identified DNAH5 as the gene responsible for PCD located on 5p. DNAH5 encodes a protein highly similar to the Chlamydomonas γ-dynein heavy chain.6 Mutants of the Chlamydomonas orthologue show a slow swimming phenotype and are characterised by axonemal abnormalities consisting of outer dynein arm (ODA) defects.7,8 This phenotype appears similar to that observed in a large Arab family used to map the PCD locus.6

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    Correction
    The correct order for the authors of this letter is:
    A Kispert, H Olbrich, A Volz, U-P Ketelsen, J Horvath, R Melkaoui, M Petry, M Zariwala, P G Noone, M Knowles, H Omran

    In the publication the authors are grouped/listed by institution.

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