Genetic profile, nasal Nitric Oxide and age at diagnosis in 60 Danish PCD patients

In Primary Ciliary Dyskinesia (PCD) genotype-phenotype characterization is warranted to further understand the heterogeneity of the disease Aim: To describe the distribution of pathogenic variants in the Danish PCD cohort and relate nasal Nitric Oxide (nNO) and age at diagnosis to the specific genetic aberration Methods: Genetic testing was performed in two labs, Copenhagen, DK and Omran Lab Munster, Germany, respectively. In Copenhagen we performed targeted NGS analysis of 33 genes associated with PCD, in Munster 38 candidate genes were analyzed nNO data were included. Age at diagnosis was defined as the date of initial PCD testing Results: 60 patients with classic PCD phenotype, verified biallelic mutations and a nNO test were included. Distribution of patients according to PCD gene defect is shown in Figure 1: Half the patients with CCDC39/40 were diagnosed at age above 5 years, hence not early. Four PCD patients showed nNO in normal range, not associated to specific mutations, Table 1: Conclusions: In this Danish cohort CCDC40 outnumbered DNAH5 Neither age at diagnosis nor nNO in normal range were associated with specific PCD genes. Normal nNO included patients with biallelic CCDC40 and DNAH5 mutations stressing that nNO cannot stand alone in excluding PCD