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

doi:10.1038/s41439-020-00134-6

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

Hum Genome Var. 2021 Jan 15;8(1):3. doi: 10.1038/s41439-020-00134-6.

Authors

Kazuhiko Takeuchi¹, Yifei Xu², Satoru Ogawa³, Makoto Ikejiri⁴, Kaname Nakatani⁵, Shimpei Gotoh⁶, Satoko Usui⁷, Sawako Masuda⁷, Mizuho Nagao⁸, Takao Fujisawa⁸

Affiliations

¹ Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Tsu, Mie, Japan. kazuhiko@clin.medic.mie-u.ac.jp.
² Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
³ Electron Microscopy Research Center, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
⁴ Department of Central Laboratories, Mie University Hospital, Tsu, Mie, Japan.
⁵ Department of Genomic Medicine, Mie University Hospital, Tsu, Mie, Japan.
⁶ Department of Drug Discovery for Lung Diseases, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
⁷ Department of Otorhinolaryngology, National Hospital Organization Mie National Hospital, Tsu, Mie, Japan.
⁸ Institute for Clinical Research, National Hospital Organization Mie National Hospital, Tsu, Mie, Japan.

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]).

Abstract

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