Diagnostic Role of Immunofluorescence Analysis in Primary Ciliary Dyskinesia-Suspected Individuals DOI Open Access
Elif Karakoç, Rim Hjeij, Zeynep Bengisu Kaya

et al.

Journal of Clinical Medicine, Journal Year: 2025, Volume and Issue: 14(6), P. 1941 - 1941

Published: March 13, 2025

Background/Objectives: Primary ciliary dyskinesia (PCD) (OMIM: 244400) is a hereditary, rare disorder with high prevalence in Turkey due to rate of consanguinity. The caused by malfunctioning motile cilia and characterized variety clinical symptoms including sinusitis, otitis media chronic obstructive pulmonary disease. This study presents the first assessment efficacy immunofluorescence (IF) labeling for diagnosing PCD correlating IF observations when genetic data are scarce. Methods: We have cohort 54 PCD-suspected individuals an age range 5–27 years classified into two groups: group A available genomic (8 individuals) B no (46 individuals). performed analysis confirm pathogenicity variants prior diagnosis typical diagnosis. Results: All had airway infections displayed PCD. Our revealed absence outer dynein arm heavy chain DNAH5 pathogenic DNAAF1 17 other individuals, nexin–dynein regulatory complex component GAS8 8 DNAH11 6 radial spoke head RSPH9 2 individuals. Furthermore, ARMC4 was confirmed docking proximal localization DNAH5. Conclusions: Immunofluorescence analysis, owing its lower cost quicker turnaround time, proves be powerful tool even or electron microscopy results.

Language: Английский

Diagnostic Role of Immunofluorescence Analysis in Primary Ciliary Dyskinesia-Suspected Individuals DOI Open Access
Elif Karakoç, Rim Hjeij, Zeynep Bengisu Kaya

et al.

Journal of Clinical Medicine, Journal Year: 2025, Volume and Issue: 14(6), P. 1941 - 1941

Published: March 13, 2025

Background/Objectives: Primary ciliary dyskinesia (PCD) (OMIM: 244400) is a hereditary, rare disorder with high prevalence in Turkey due to rate of consanguinity. The caused by malfunctioning motile cilia and characterized variety clinical symptoms including sinusitis, otitis media chronic obstructive pulmonary disease. This study presents the first assessment efficacy immunofluorescence (IF) labeling for diagnosing PCD correlating IF observations when genetic data are scarce. Methods: We have cohort 54 PCD-suspected individuals an age range 5–27 years classified into two groups: group A available genomic (8 individuals) B no (46 individuals). performed analysis confirm pathogenicity variants prior diagnosis typical diagnosis. Results: All had airway infections displayed PCD. Our revealed absence outer dynein arm heavy chain DNAH5 pathogenic DNAAF1 17 other individuals, nexin–dynein regulatory complex component GAS8 8 DNAH11 6 radial spoke head RSPH9 2 individuals. Furthermore, ARMC4 was confirmed docking proximal localization DNAH5. Conclusions: Immunofluorescence analysis, owing its lower cost quicker turnaround time, proves be powerful tool even or electron microscopy results.

Language: Английский

Citations

0