Mutations in DNAH5 account for only 15% of a nonpreselected cohort of patients with primary ciliary dyskinesia

M. Failly, L. Bartoloni, A. Letourneau, A. Munoz, E. Falconnet, C. Rossier, M. De Santi, F. Santamaria, O. Sacco, C. D. Delozier-Blanchet, R. Lazor, J. L. Blouin

Research output: Contribution to journalArticlepeer-review


Background: Primary ciliary dyskinesia (PCD) is characterised by recurrent infections of the upper respiratory airways (nose, bronchi, and frontal sinuses) and randomisation of left-right body asymmetry. To date, PCD is mainly described with autosomal recessive inheritance and mutations have been found in five genes: the dynein arm protein subunits DNAI1, DNAH5 and DNAH11, the kinase TXNDC3, and the X-linked retinitis pigmentosa GTPase regulator RPGR. Methods: We screened 89 unrelated individuals with PCD for mutations in the coding and splice site regions of the gene DNAH5 by denaturing high performance liquid chromatography (DHPLC) and sequencing. Patients were mainly of European origin and were recruited without any phenotypic preselection. Results: We identified 18 novel (nonsense, splicing, small deletion and missense) and six previously described mutations. Interestingly, these DNAH5 mutations were mainly associated with outer + inner dyneins arm ultrastructural defects (50%). Conclusion: Overall, mutations on both alleles of DNAH5 were identified in 15% of our clinically heterogeneous cohort of patients. Although genetic alterations remain to be identified in most patients, DNAH5 is to date the main PCD gene.

Original languageEnglish
Pages (from-to)281-286
Number of pages6
JournalJournal of Medical Genetics
Issue number4
Publication statusPublished - Apr 2009

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Mutations in DNAH5 account for only 15% of a nonpreselected cohort of patients with primary ciliary dyskinesia'. Together they form a unique fingerprint.

Cite this