Implementation of a gene panel for the genetic diagnosis of primary ciliary dyskinesia

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Background: Primary ciliary dyskinesia (PCD) is a disease characterized by an alteration in the ciliary structure that causes an abnormal clearance of respiratory secretions. Its diagnosis is complex and is based on a combination of different techniques. The objective of this study was to design a gene panel including all known caustive genes, and to verify the utility for diagnostic in a cohort of Spanish patients. Methods: Multicenter cross-sectional study of patients with high suspicion of PCD, applying the criteria of the European Respiratory Society. Design a gene panel for mass sequencing with SeqCap EZ technology, including 44 PCD-related genes. Results: 79 patients were included, 53 of those diagnosed with confirmed or highly likely PCD. The sensitivity of the gene panel was 81.1% with a specificity of 100%. Candidate variants were found in any of the panel genes 43 patients with PCD, with 51.2% (22/43) homozygous and 48.8% (21/43) compound heterozygous. The most common causal genes were DNAH5 and CCDC39, in patients of Caucasian origin, while in non-Caucasian ones the most common causal genes were CCDC40, DNAI2 and RSPH4A. We found 52 different variants, 36 not previously described in the literature. Conclusions: The results of this study show that the design and implementation of an specific gene panel has a high efficiency forgenetic diagnostic of PCD, allowing for a better understanding of the causal of this disease and laying the basis for future therapeutic approaches

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