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

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

Abstract 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...

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Bibliographic Details
Main Authors: Kazuhiko Takeuchi, Yifei Xu, Satoru Ogawa, Makoto Ikejiri, Kaname Nakatani, Shimpei Gotoh, Satoko Usui, Sawako Masuda, Mizuho Nagao, Takao Fujisawa
Format: Article
Language:English
Published: Nature Publishing Group 2021-01-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-020-00134-6
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Summary:Abstract 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]).
ISSN:2054-345X

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