This article is part of the supplement: Proceedings of the First International Cilia in Development and Disease Scientific Conference (2012)

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Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

M Legendre1*, S Blanchon12, B Copin1, P Duquesnoy1, G Montantin1, E Kott1, F Dastot1, L Jeanson1, M Cachanado3, A Rousseau3, JF Papon4, A Tamalet2, AM Vojtek5, D Escalier1, A Coste4, J de Blic6, A Clément2, E Escudier1 and S Amselem1

Author Affiliations

1 INSERM, UMR_S933, UPMC Univ Paris 06; and AP-HP, Hôpital Armand-Trousseau, Service de Génétique et d’Embryologie Médicales, F-75012, Paris, France

2 AP-HP, Hôpital Armand-Trousseau, Unité de Pneumologie Pédiatrique, Centre National de Référence des Maladies Respiratoires Rares, F-75012, Paris, France

3 AP-HP, Hôpital Saint-Antoine, Unité de Recherche Clinique; and UPMC Univ Paris 06, Unité Fonctionnelle de Pharmacologie, F-75012, Paris, France

4 AP-HP, Hôpital Inter-Communal et Groupe Hospitalier Henri Mondor-Albert Chenevier, Service d’ORL et de Chirurgie Cervico-Faciale, F-94000, Créteil, France

5 Hôpital Inter-Communal, Service d’Anatomo-Pathologie, F-94000, Créteil, France

6 AP-HP, Groupe Hospitalier Necker-Enfants Malades, Service de Pneumologie et Allergologie Pédiatriques, F-75015, Paris, France

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Cilia 2012, 1(Suppl 1):P91  doi:10.1186/2046-2530-1-S1-P91

The electronic version of this article is the complete one and can be found online at:

Published:16 November 2012

© 2012 Legendre et al; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


CCDC39 and CCDC40 genes have recently been implicated in primary ciliary dyskinesia (PCD) with inner dynein arms (IDA) defects and axonemal disorganization; their contribution to the disease is, however, unknown. With the aim to delineate CCDC39/CCDC40 mutation spectrum and associated phenotypes, we screened a large cohort of patients with IDA defects, and accurately described their clinical and ciliary phenotypes.


All CCDC39 and CCDC40 exons and intronic boundaries were sequenced in 43 patients from 40 unrelated families. We recorded and compared clinical features (sex, origin, consanguinity, laterality defects, ages at first symptoms and evaluation, neonatal respiratory distress, airway infections, nasal polyposis, otitis media, bronchiectasis, infertility), ciliary beat frequency and quantitative ultrastructural analyses of cilia and sperm flagella.


Biallelic CCDC39 or CCDC40 mutations were identified in 30/34 (88.2%) unrelated families with IDA defects and axonemal disorganization (22 and 8 families, respectively). Fourteen of the 28 identified mutations are novel. No mutation was found in the 6 families with isolated IDA defects. Patients with identified mutations shared a similar phenotype, in terms of both clinical features and ciliary structure and function. The sperm flagellar ultrastructure, analyzed in 4/7 infertile males, evidenced abnormalities similar to the ciliary ones.


CCDC39 and CCDC40 mutations represent the major cause of PCD with IDA defects and axonemal disorganization. Patients carrying CCDC39 or CCDC40 mutations are phenotypically indistinguishable. CCDC39 and CCDC40 analyses in selected patients ensure to find mutations with high probability, even if clinical or ciliary phenotypes cannot prioritize one analysis over the other.