Abstract：
Primary ciliary dyskinesia (PCD) is a genetic and congenital disease associated with an abnormal ciliary ultrastructure and function and is estimated to affect 1 in 15,000-20,000 individuals. A PCD diagnosis can be achieved by genotyping. Here, we performed whole-exome analysis for the diagnosis of PCD and described the detailed clinical characteristics of the case. A 39-year-old Japanese woman with sinusitis and bronchiectasis without situs inversus had had upper and lower respiratory symptoms since childhood and had received long-term macrolide therapy without an accurate diagnosis. A moderate deterioration of cilia function was observed by high-speed video microscopy analysis; additionally, the number of cells with moving cilia was fewer than that in patients without PCD. Electron microscopy revealed no apparent structural abnormalities. We performed whole-exome analysis and identified novel biallelic variants of SPEF2 in the homozygous state (c.1860_1861insCT). We confirmed the absence of SPEF2 protein expression in the cilia of the nasal mucosa using fluorescent immunostaining. Accordingly, she was diagnosed as having PCD with the SPEF2 variant. The present case suggests that the deterioration of cilia function is moderate, the number of respiratory cells with moving cilia might be reduced, and the respiratory condition could be severe in patients with PCD with the SPEF2 variant.
摘要：
原发性纤毛运动障碍（PCD）是一种与纤毛超微结构和功能异常相关的遗传和先天性疾病，估计影响15,000-20,000个个体中的1个。PCD诊断可以通过基因分型来实现。这里,我们对PCD的诊断进行了全外显子组分析,并描述了病例的详细临床特征.一名39岁的日本女性，患有鼻窦炎和支气管扩张，没有反位，从小就有上呼吸道和下呼吸道症状，并且在没有准确诊断的情况下接受了长期的大环内酯治疗。通过高速视频显微镜分析观察到纤毛功能的中度恶化；此外，有移动纤毛的细胞数量少于没有PCD的患者。电子显微镜显示没有明显的结构异常。我们进行了全外显子组分析，并鉴定了纯合状态的SPEF2的新型双等位基因变体（c.1860_1861insCT）。我们使用荧光免疫染色证实了鼻粘膜纤毛中不存在SPEF2蛋白表达。因此，她被诊断为患有SPEF2变异的PCD.目前的情况表明纤毛功能的恶化是中度的，带有移动纤毛的呼吸细胞的数量可能会减少，并且SPEF2变异的PCD患者的呼吸状况可能很严重。
