Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia
Steven K. Brennan, Thomas W. Ferkol, Stephanie D. Davis
Abstract
Primary ciliary dyskinesia (PCD) is a rare inherited condition affecting motile cilia and leading to organ laterality defects, recurrent sino-pulmonary infections, bronchiectasis, and severe lung disease. Research over the past twenty years has revealed variability in clinical presentations, ranging from mild to more severe phenotypes. Genotype and phenotype relationships have emerged. The increasing availability of genetic panels for PCD continue to redefine these genotype-phenotype relationships and reveal milder forms of disease that had previously gone unrecognized.
Topics & Concepts
Primary ciliary dyskinesiaBronchiectasisPhenotypeGenotypeCiliumDyskinesiaDiseaseBiologyMotile ciliumGeneticsGenotype-phenotype distinctionPathologyImmunologyLungMedicineInternal medicineGeneParkinson's diseaseCystic Fibrosis Research AdvancesGenetic and Kidney Cyst DiseasesGenetic Syndromes and Imprinting