Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

Abstract

Advances 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. This 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. As we move forward, the growing genomic knowledge about primary ciliary dyskinesia will aid diagnosis, understanding of prognosis and the establishment of future therapeutic trials.