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Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia

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Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia

dc.contributor.author	Baz-Redón, Noelia
dc.contributor.author	Rovira-Amigo, Sandra
dc.contributor.author	Paramonov, Ida
dc.contributor.author	Castillo-Corullón, Silvia
dc.contributor.author	Cols-Roig, María
dc.contributor.author	Antolín, Maria
dc.contributor.author	García-Arumí, Elena
dc.contributor.author	Torrent-Vernetta, Alba
dc.contributor.author	de-Mir-Messa, Inés
dc.contributor.author	Gartner, Silvia
dc.contributor.author	Iglesias-Serrano, Ignacio
dc.contributor.author	Caballero-Rabasco, Araceli
dc.contributor.author	Asensio-de-la-Cruz, Óscar
dc.contributor.author	Vizmanos-Lamotte, Gerardo
dc.contributor.author	Martín-de-Vicente, Carlos
dc.contributor.author	Martínez-Colls, Maria-del-Mar
dc.contributor.author	Reula, Ana
dc.contributor.author	Escribano Montaner, Amparo
dc.contributor.author	Dasí Fernández, Francisco
dc.contributor.author	Armengot Carceller, Miguel
dc.contributor.author	Polverino, Eva
dc.contributor.author	Amengual-Pieras, Esther
dc.contributor.author	Amaro-Rodríguez, Rosanel
dc.contributor.author	Garrido-Pontnou, Marta
dc.contributor.author	Tizzano, Eduardo
dc.contributor.author	Camats-Tarruella, Núria
dc.contributor.author	Fernández-Cancio, Mónica
dc.contributor.author	Moreno-Galdó, Antonio
dc.date.accessioned	2023-10-30T15:27:17Z
dc.date.available	2023-10-30T15:27:17Z
dc.date.issued	2021
dc.identifier.uri	https://hdl.handle.net/10550/90745
dc.description.abstract	Introduction: Primary ciliary dyskinesia (PCD) is characterized by an alteration in the ciliary structure causing difficulty in the clearance of respiratory secretions. Diagnosis is complex and based on a combination of techniques. The objective of this study was to design a gene panel including all known causative genes, and to corroborate their diagnostic utility in a cohort of Spanish patients. 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.
dc.relation.ispartof	Archivos de Bronconeumologia, 2021, vol. 57, num. 3, p. 186-194
dc.source	Baz-Redón, Noelia Rovira-Amigo, Sandra Paramonov, Ida Castillo-Corullón, Silvia Cols-Roig, María Antolín, Maria García-Arumí, Elena Torrent-Vernetta, Alba de-Mir-Messa, Inés Gartner, Silvia Iglesias-Serrano, Ignacio Caballero-Rabasco, Araceli Asensio-de-la-Cruz, Óscar Vizmanos-Lamotte, Gerardo Martín-de-Vicente, Carlos Martínez-Colls, Maria-del-Mar Reula, Ana Escribano Montaner, Amparo Dasí Fernández, 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 2021 Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia Archivos de Bronconeumologia 57 3 186 194
dc.subject	Aparell respiratori Malalties
dc.title	Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia
dc.type	journal article
dc.date.updated	2023-10-30T15:27:17Z
dc.identifier.doi	10.1016/j.arbres.2020.02.010
dc.identifier.idgrec	144636
dc.rights.accessRights	open access