Implementation of a gene panel for the genetic diagnosis of primary ciliary dyskinesia
Background: Primary ciliary dyskinesia (PCD) is a disease characterized by an alteration in the ciliary structure that causes an abnormal clearance of respiratory secretions. Its diagnosis is complex and is based on a combination of different techniques. The objective of this study was to design a gene panel including all known caustive genes, and to verify the utility for diagnostic in a cohort of Spanish patients. Methods: Multicenter cross-sectional study of patients with high suspicion of PCD, applying the criteria of the European Respiratory Society. Design a gene panel for mass sequencing with SeqCap EZ technology, including 44 PCD-related genes. Results: 79 patients were included, 53…
Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins in human respiratory cells by fluorescence, has been recently proposed as a technique to improve understanding of disease-causing genes and diagnosis rate in PCD. The objective of this study is to determine the accuracy of a panel of four fluorescently labeled antibodies (DNAH5, DNALI1, GAS8 and RSPH4A or RSPH9) as a PCD diagnostic tool in the absence of transmission electron microscopy analysis. The panel was tested in nasal brushing samples of 74 patients with clinical suspic…