Human Genome Variation (Jan 2021)

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
https://doi.org/10.1038/s41439-020-00134-6
Journal volume & issue
Vol. 8, no. 1
pp. 1 – 3

Abstract

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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]).