Primary Ciliary Dyskinesia - An Update on the Genetics of Underlying Pathological Mechanisms

Abstract

Abstract: One of the rapidly growing groups of diseases known as ciliopathies is primary ciliary dyskinesia (PCD), a rare hereditary illness of the motile cilia. Different clinical symptoms of prima-ry ciliary dyskinesia include infertility, left-right lateralization abnormalities, and chronic upper and lower respiratory tract disorders. Our knowledge of the genetics underlying primary ciliary dyskine-sia has significantly increased in recent years. Involved in the formation, shape, and operation of motile cilia are axonemal, cytoplasmic, and regulatory proteins that are encoded by a rising number of disease-associated genes and pathogenic mutations. We now have a better grasp of the clinical signs and symptoms of motile ciliopathies because of advances in our understanding of cilia genet-ics and the function of the proteins expressed. These developments have altered how we approach primary ciliary dyskinesia diagnostic testing. The clinical characteristics of primary ciliary dyskine-sia, the evolution of diagnostics, and the discovery of previously unknown genotype-phenotype connections in primary ciliary dyskinesia will all be covered in this review paper.