Karakoç Elif, Hjeij Rim, Kaya Zeynep Bengisu, Emiralioğlu Nagehan, Ademhan Tural Dilber, Atilla Pergin, Özçelik Uğur, Omran Heymut
Department of Histology and Embryology, Faculty of Medicine, Hacettepe University, 06230 Ankara, Turkey.
Department of General Pediatrics, University Hospital Muenster, 48149 Muenster, Germany.
J Clin Med. 2025 Mar 13;14(6):1941. doi: 10.3390/jcm14061941.
: Primary ciliary dyskinesia (PCD) (OMIM: 244400) is a hereditary, rare disorder with a high prevalence in Turkey due to a high rate of consanguinity. The disorder is caused by malfunctioning motile cilia and is characterized by a variety of clinical symptoms including sinusitis, otitis media and chronic obstructive pulmonary disease. This study presents the first assessment of the efficacy of immunofluorescence (IF) labeling for diagnosing PCD in Turkey by correlating IF with clinical observations when genetic data are scarce. : We have a cohort of 54 PCD-suspected individuals with an age range of 5-27 years classified into two groups: group A with available genomic data (8 individuals) and group B with no available genomic data (46 individuals). We performed immunofluorescence analysis to confirm the pathogenicity of the variants in individuals with a prior genetic diagnosis and to confirm a PCD diagnosis in individuals with typical PCD symptoms and no genetic diagnosis. : All individuals had airway infections and displayed clinical symptoms of PCD. Our data revealed an absence of outer dynein arm dynein heavy chain DNAH5 in individuals with pathogenic variants in and and in 17 other PCD-suspected individuals, an absence of nexin-dynein regulatory complex component GAS8 in 8 PCD-suspected individuals, an absence of outer dynein arm dynein heavy chain DNAH11 in 6 PCD-suspected individuals and an absence of radial spoke head component RSPH9 in 2 PCD-suspected individuals. Furthermore, the pathogenicity of variants was confirmed by the absence of the outer dynein arm docking complex component ARMC4 and the proximal localization of DNAH5. : Immunofluorescence analysis, owing to its lower cost and quicker turnaround time, proves to be a powerful tool for diagnosing PCD even in the absence of genetic data or electron microscopy results.
原发性纤毛运动障碍（PCD）（OMIM：244400）是一种遗传性罕见疾病，由于土耳其近亲结婚率高，其在该国的患病率也较高。该疾病由运动性纤毛功能异常引起，其特征是出现包括鼻窦炎、中耳炎和慢性阻塞性肺疾病在内的多种临床症状。本研究首次通过在缺乏基因数据时将免疫荧光（IF）与临床观察结果相关联，对土耳其采用免疫荧光（IF）标记诊断PCD的有效性进行了评估。我们有一组54名疑似PCD的个体，年龄在5至27岁之间，分为两组：A组有可用的基因组数据（8人），B组没有可用的基因组数据（46人）。我们进行了免疫荧光分析，以确认先前有基因诊断的个体中变异的致病性，并在有典型PCD症状但无基因诊断的个体中确认PCD诊断。所有个体均有气道感染并表现出PCD的临床症状。我们的数据显示，在携带 和 致病性变异的个体以及另外17名疑似PCD的个体中，缺乏外动力臂动力蛋白重链DNAH5；在8名疑似PCD的个体中，缺乏连接蛋白-动力蛋白调节复合体成分GAS8；在6名疑似PCD的个体中，缺乏外动力臂动力蛋白重链DNAH11；在2名疑似PCD的个体中，缺乏辐条头部成分RSPH9。此外，通过缺乏外动力臂对接复合体成分ARMC4和DNAH5的近端定位，证实了 变异的致病性。免疫荧光分析由于成本较低且周转时间较快，即使在没有基因数据或电子显微镜结果的情况下，也被证明是诊断PCD的有力工具。
