%0 Journal Article
%T Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients
%A Ambra Spalletta
%A Angelo Barbato
%A Cecilia Salvoro
%A Deborah Snijders
%A Donatella Girosi
%A Francesca Boaretto
%A Giovanni Arturo Rossi
%A Giovanni Vazza
%A Maria Luisa Mostacciuolo
%A Michela Silvestri
%A Mirella Collura
%A Salvatore Cazzato
%J The Journal of Molecular Diagnostics
%D 2016
%R 10.1016/j.jmoldx.2016.07.002
%X Primary ciliary dyskinesia (PCD) is a rare genetic disorder that alters mucociliary
clearance, with consequent chronic disease of upper and lower airways. Diagnosis of
PCD is challenging, and genetic testing is hampered by the high heterogeneity of the
disease, because autosomal recessive causative mutations were found in 34 different
genes. In this study, we clinically and molecularly characterized a cohort of 51 Italian
patients with clinical signs of PCD. A custom next-generation sequencing panel that
enables the affordable and simultaneous screening of 24 PCD genes was developed for
genetic analysis.
%U https://jmd.amjpathol.org/article/S1525-1578(16)30137-4/fulltext