GENETIC MUTATIONS IN PATIENTS W/ PRIMARY CILIARY DYSKINESIA & FAMILY

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The purpose of this study is to identify the genetic mutations associated with Primary Ciliary Dyskinesia (PCD), a disease of defective cilia, muccociliary clearance, and chronic lung and sinus disease. No genetic mutations have yet been discovered to be linked to PCD in humans. We wish to identify patients with PCD and focus on multiplex families (more than one member affected, more than one generation available) to bring to the GCRC for detailed clinical assessments, to include chest and sinus radiographs, lung function tests, ciliary biopsies, nasal nitric oxide measurements and DNA acquisition. We will also send out kits through the mail to unaffected family members who are unable to travel to Chapel Hill which allow DNA to be sampled from the cheek (a simple buccal scrape). The final database will allow careful correlation between affected members, unaffected members and phenotype (ciliary ultra-structure), and allow a careful search for genetic mutations through linkage analysis and using candidate genes.