Article
Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalence.
Human mutation - 1 Jun 2021
Yiallouros Panayiotis K, Kouis Panayiotis, Kyriacou Kyriacos, Evriviadou Aigli, Anagnostopoulou Pinelopi, Matthaiou Andreas, Tsiolakis Ioannis, Pirpa Panayiota, Michailidou Kyriaki, Potamiti Louiza, Loizidou Maria A, Hadjisavvas Andreas
Abstract excerpt
We aimed to determine a genetic diagnosis in the national primary ciliary dyskinesia (PCD) cohort of Cyprus, an island with a high disease prevalence. We used targeted next-generation sequencing (NGS) of 39 PCD genes in 48 patients of Greek-Cypriot and other ancestries. We achieved a molecular diagnosis in 74% of the unrelated families tested. We identified 24 different mutations in 11 genes, 12 of which are...
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