Primary ciliary dyskinesia multigene NGS diagnostic testing in Cyprus

The dataset describes the genetic diagnosis in the national PCD cohort of Cyprus, an island with a high disease prevalence. Targeted next-generation sequencing (NGS) of 39 known PCD genes was carried out in samples from 48 patients of Greek-Cypriot and other ancestries. Molecular diagnosis was achived in 74% of the unrelated families tested (68% of Greek-Cypriot and 90% of non-Greek-Cypriot origin respectively). A total of 24 different mutations in 11 genes, 12 of which are novel were identified. These were categorized as nonsense (n= 9), splice-site (7), frameshift (n= 4), and missense (n= 3) mutations, and small deletions (n= 1). Homozygosity was more common in Greek-Cypriot than non-Greek-Cypriot patients (88% vs 46.2%, p =0.016). Four mutations (DNAH11:c.5095-2A>G, CFAP300:c.95_103delGCCGGCTCC, TTC25:c.716G>A, RSPH9: c.670+2T>C,) were found in 74% of the diagnosed Greek-Cypriot families, usually appearing in homozygosity and regional clusters. Patients with RSPH9 mutations ...