Primary ciliary dyskinesia is an inherited respiratory disease caused by various functional and ultrastructural abnormalities of respiratory cilia. The genetic heterogeneity underlying PCD is extremely important and only few genes are clearly implicated in PCD. Their mutations account for about 20% of patients. For all the other PCD patients, the genes responsible for their ciliary defect remain to be identify.
1/ Evaluating the frequency of mutations of the two main genes implicated in PCD, in a large cohort of patients with PCD confirmed by ciliary investigations.2/ Identifying and testing new candidate genes responsible not only for typical PCD and related disorders of the axoneme, but also for so far-unexplored "syndromic forms of PCD", taking advantage of data obtained through comparative genomic approaches between different species, ciliated or not.
Study Type
OBSERVATIONAL
Enrollment
125
Blood sample of 5 ml
Hôpital A. Trousseau, Service de Génétique et d'Embryologie Médicales
Paris, France
After DNA extraction,standard procedures for the identification of human gene mutations will be used for each gene tested in the study
Time frame: At the inclusion visit
Complementary ciliary investigations in patients with suspected primary ciliary dyskinesia.
Time frame: At the inclusion visit
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