Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder

gene in the proband arose de novo. At the time of analysis, these variants were classified as variants of uncertain significance (VUS) or likely benign, with limited segregation data and no definitive functional validation. Although the genetic findings were not diagnostic on their own, the clinical picture (situs inversus, neonatal respiratory distress, recurrent infections) was strongly suggestive of PCD. Both cases illustrate the crucial role of WES in establishing a molecular diagnosis of PCD, particularly when the use of traditional diagnostic methods is inconclusive. Moreover, they demonstrate the value of genomic testing in guiding the clinical management and informing about prognosis in diseases like PCD.