A pediatric case of productive cough caused by novel variants in DNAH9

Kazuhiko Takeuchi,Yifei Xu,Satoru Ogawa,Makoto Ikejiri,Kaname Nakatani,Shimpei Gotoh,Satoko Usui,Sawako Masuda,Mizuho Nagao,Takao Fujisawa

HUMAN GENOME VARIATION（2021）

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摘要

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]).

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关键词

Medical genomics,Respiratory tract diseases,Biomedicine,general,Human Genetics,Molecular Medicine,Gene Function,Gene Expression,Gene Therapy

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