Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.
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Baz-Redón Noelia, Rovira-Amigo Sandra, Paramonov Ida, Castillo-Corullón Silvia, Cols Roig Maria, Antolín María, García Arumí Elena, Torrent-Vernetta Alba, de Mir Messa Inés, Gartner Silvia, Iglesias Serrano Ignacio, Caballero-Rabasco M Araceli, Asensio de la Cruz Óscar, Vizmanos-Lamotte Gerardo, Martín de Vicente Carlos, Martínez-Colls María Del Mar, Reula Ana, Escribano Amparo, Dasí Francisco, Armengot-Carceller Miguel, Polverino Eva, Amengual Pieras Esther, Amaro-Rodríguez Rosanel, Garrido-Pontnou Marta, Tizzano Eduardo, Camats-Tarruella Núria, Fernández-Cancio Mónica, Moreno-Galdó Antonio
Аннотация
METHODS: This was a multicenter cross-sectional study of patients with a high suspicion of PCD, according to European Respiratory Society criteria, designed around a gene panel for massive sequencing using SeqCap EZ capture technology that included 44 genes associated with PCD.
RESULTS: We included 79 patients, 53 of whom had a diagnosis of confirmed or highly probable PCD. The sensitivity of the gene panel was 81.1%, with a specificity of 100%. Candidate variants were found in some of the genes of the panel in 43 patients with PCD, 51.2% (22/43) of whom were homozygotes and 48.8% (21/43) compound heterozygotes. The most common causative genes were DNAH5 and CCDC39. We found 52 different variants, 36 of which were not previously described in the literature.
CONCLUSIONS: The design and implementation of a tailored gene panel produces a high yield in the genetic diagnosis of PCD. This panel provides a better understanding of the causative factors involved in these patients and lays down the groundwork for future therapeutic approaches.