Genetic characteristics of Primary Ciliary Dyskinesia.

Primary Ciliary Dyskinesia (PCD) is an autosomal recessive hereditary disorder that causes dysfunction of cilia. Patients suffer from frequent respiratory infections and often develop bronchiectasis. Diagnosing PCD is difficult as a single gold standard is lacking. The diagnosis is usually based on a combination of clinical symptoms, abnormal movement of cilia on microscopic evaluation of respiratory epithelial biopsies and epithelial cell cultures, and/or identification of an ultra structural defect in the cilia by electron microscopy. Genetic testing is time consuming and very costly as there are many large genes involved. However, recent developments enable rapid DNA sequencing of many fragments in parallel.



We aim to validate Massive Parallel Sequencing (MPS) in Primary Ciliary Dyskinesia and identify novel disease causing mutations in our Dutch PCD population.



We aim to include all children and adults with PCD visiting the VU University Medical Center, Amsterdam.

We aim to validate Massive Parallel Sequencing in Primary Ciliary Dyskinesia (PCD) and identify novel disease causing mutations in the Dutch PCD population.

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