Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia
Open Access
- 8 November 2020
- journal article
- research article
- Published by MDPI AG in Journal of Clinical Medicine
- Vol. 9 (11), 3603
- https://doi.org/10.3390/jcm9113603
Abstract
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 suspicion of PCD. Sixty-eight (91.9%) patients were evaluable for all tested antibodies. Thirty-three cases (44.6%) presented an absence or mislocation of protein in the ciliary axoneme (15 absent and 3 proximal distribution of DNAH5 in the ciliary axoneme, 3 absent DNAH5 and DNALI1, 7 absent DNALI1 and cytoplasmatic localization of GAS8, 1 absent GAS8, 3 absent RSPH9 and 1 absent RSPH4A). Fifteen patients had confirmed or highly likely PCD but normal immunofluorescence results (68.8% sensitivity and 100% specificity). In conclusion, immunofluorescence analysis is a quick, available, low-cost and reliable diagnostic test for PCD, although it cannot be used as a standalone test.This publication has 50 references indexed in Scilit:
- CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic CiliaPLOS ONE, 2013
- DYX1C1 is required for axonemal dynein assembly and ciliary motilityNature Genetics, 2013
- Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary DyskinesiaAmerican Journal of Human Genetics, 2012
- Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body AsymmetryAmerican Journal of Human Genetics, 2012
- Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesiaNature Genetics, 2012
- The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formationNature Genetics, 2010
- CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsNature Genetics, 2010
- Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm DefectsAmerican Journal of Human Genetics, 2009
- Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair AbnormalitiesAmerican Journal of Human Genetics, 2009
- DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein ArmAmerican Journal of Human Genetics, 2008