Kartagener Syndrome, Primary Ciliary Dyskinesia
Conditions
Keywords
Cilia, Axoneme, Dynein, Gene, Ultrastructure, Linkage analysis
Brief summary
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.
Detailed description
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.
Interventions
OTHERBlood sample
Blood sample of 5 ml
Sponsors
Assistance Publique - Hôpitaux de Paris
Study design
Observational model
FAMILY_BASED
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
1 Months to No maximum
Healthy volunteers
No
Inclusion criteria
* Patients with suspected or confirmed primary ciliary dyskinesia after ciliary investigations who accepted to participate to the genetic studies.
Exclusion criteria
* Patients with exclusion of primary ciliary dyskinesia after ciliary investigations.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| After DNA extraction,standard procedures for the identification of human gene mutations will be used for each gene tested in the study | At the inclusion visit |
Secondary
| Measure | Time frame |
|---|---|
| Complementary ciliary investigations in patients with suspected primary ciliary dyskinesia. | At the inclusion visit |
Countries
France
Outcome results
None listed