I. Characterize the clinical presentation of patients with primary ciliary dyskinesia.
II. Identify the genetic mutations associated with this disease.
Participants undergo a scrape biopsy acquisition of nasal cells for ciliary studies, a chest
radiograph, sinus radiographs, lung function tests, sputum cultures, nitric oxide
measurement, and an ear, nose and throat evaluation to screen for primary ciliary dyskinesia
(PCD). Blood collection and/or a buccal scrape is also performed for genetic studies.
Genetic studies include molecular linkage analyses, genetic mapping, and gene mutation
identification based on large deletions. Microsatellite markers are used to identify
Genetic counseling is provided to all participants.
- Histologically or cytologically confirmed primary ciliary dyskinesia (PCD)
- Family members of patients with PCD