We report the first Japanese case of primary ciliary dyskinesia caused by DNAH9 variations. The patient, a 5-year-old girl, had repeated episodes of productive cough after contracting the common cold at the age of 1 year and 6 months. She did not have a situs abnormality or congenital heart defect. We identified two novel DNAH9 variants, NM_001372.3: c. [1298C>G];[5547_5550delTGAC], (p.[Ser433Cys];[Asp1850fs]).

中文翻译：

---

由 DNAH9 的新变异引起的儿科咳痰

我们报告了第一例由DNAH9变异引起的日本原发性纤毛运动障碍病例。患者，一名 5 岁女孩，在 1 岁零 6 个月大时感染普通感冒后反复出现排痰性咳嗽。她没有部位异常或先天性心脏缺陷。我们鉴定了两个新的 DNAH9变体，NM_001372.3：c。[1298C>G]；[5547_5550delTGAC]，（p.[Ser433Cys]；[Asp1850fs]）。