Implementación de un panel de genes para el diagnóstico genético de la discinesia ciliar primaria

Translated title of the contribution: Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia

Noelia Baz-Redón, Sandra Rovira-Amigo, Ida Paramonov, Silvia Castillo-Corullón, Maria Cols Roig, María Antolín, Elena García Arumí, Alba Torrent-Vernetta, Inés de Mir Messa, Silvia Gartner, Ignacio Iglesias Serrano, M. Araceli Caballero-Rabasco, Óscar Asensio de la Cruz, Gerardo Vizmanos-Lamotte, Carlos Martín de Vicente, María del Mar Martínez-Colls, Ana Reula, Amparo Escribano, Francisco Dasí, Miguel Armengot-CarcellerEva Polverino, Esther Amengual Pieras, Rosanel Amaro-Rodríguez, Marta Garrido-Pontnou, Eduardo Tizzano, Núria Camats-Tarruella, Mónica Fernández-Cancio, Antonio Moreno-Galdó*

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

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.

Translated title of the contributionImplementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia
Original languageSpanish
JournalArchivos de Bronconeumologia
DOIs
Publication statusAccepted in press - 2020

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