一例由DNAH9基因新变异导致的小儿咳痰性咳嗽病例。
A pediatric case of productive cough caused by novel variants in DNAH9.
作者信息
Takeuchi Kazuhiko, Xu Yifei, Ogawa Satoru, Ikejiri Makoto, Nakatani Kaname, Gotoh Shimpei, Usui Satoko, Masuda Sawako, Nagao Mizuho, Fujisawa Takao
机构信息
Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
Electron Microscopy Research Center, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
出版信息
Hum Genome Var. 2021 Jan 15;8(1):3. doi: 10.1038/s41439-020-00134-6.
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]).
我们报告了首例由DNAH9变异引起的原发性纤毛运动障碍的日本病例。该患者为一名5岁女孩，在1岁6个月患普通感冒后反复出现咳痰性咳嗽。她没有内脏反位异常或先天性心脏缺陷。我们鉴定出两个新的DNAH9变异，NM_001372.3:c.[1298C>G];[5547_5550delTGAC]，(p.[Ser433Cys];[Asp1850fs])。
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