Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

AbstractPurpose of ReviewAdvances in molecular genetics have improved our understanding of primary ciliary dyskinesia. The purpose of this review is to describe the integration of genetics into clinical practice.Recent FindingsThis review describes  >  50 genes which have been identified to cause multiple motile ciliopathies. Known genotype–phenotype relationships are explored, including genes associated with worse prognosis (CCDC39, CCDC40, CCNO). Features which indicate referral for genetic testing such as a family history, situs defects and lifelong chronic upper and lower respiratory tract disease are described along with how genetics fits into current guidelines for diagnostic algorithms, and the potential challenges and advantages.SummaryAs we move forward, the growing genomic knowledge about primary ciliary dyskinesia will aid diagnosis, understanding of prognosis and the establishment of future therapeutic trials.
Source: Current Respiratory Care Reports - Category: Respiratory Medicine Source Type: research