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

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....

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Bibliographic Details
Published in:Human genome variation 2021-01, Vol.8 (1), p.3-3, Article 3
Main Authors: Takeuchi, Kazuhiko, Xu, Yifei, Ogawa, Satoru, Ikejiri, Makoto, Nakatani, Kaname, Gotoh, Shimpei, Usui, Satoko, Masuda, Sawako, Nagao, Mizuho, Fujisawa, Takao
Format: Article
Language:English
Subjects:
631/208/212/2301
692/699/1785
Asthma
Biomedical and Life Sciences
Biomedicine
Biopsy
Common cold
Cough
Data Report
Dyskinesia
Eardrum
Gene Expression
Gene Function
Gene Therapy
Genomes
Hospitals
Human Genetics
Medicine
Microscopy
Molecular Medicine
Mutation
Nose
Otolaryngology
Patients
Pediatrics
Primary ciliary dyskinesia
Sinusitis
University graduates
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Summary: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
2054-345X
DOI:10.1038/s41439-020-00134-6