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...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2021-01-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-020-00134-6 |
| _version_ | 1818665295959556096 |
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| author | Kazuhiko Takeuchi Yifei Xu Satoru Ogawa Makoto Ikejiri Kaname Nakatani Shimpei Gotoh Satoko Usui Sawako Masuda Mizuho Nagao Takao Fujisawa |
| author_facet | Kazuhiko Takeuchi Yifei Xu Satoru Ogawa Makoto Ikejiri Kaname Nakatani Shimpei Gotoh Satoko Usui Sawako Masuda Mizuho Nagao Takao Fujisawa |
| author_sort | Kazuhiko Takeuchi |
| collection | DOAJ |
| description | 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]). |
| first_indexed | 2024-12-17T05:46:22Z |
| format | Article |
| id | doaj.art-694c8e7bf4d2482db6f3d3c519609cf4 |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2024-12-17T05:46:22Z |
| publishDate | 2021-01-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-694c8e7bf4d2482db6f3d3c519609cf42022-12-21T22:01:18ZengNature Publishing GroupHuman Genome Variation2054-345X2021-01-01811310.1038/s41439-020-00134-6A pediatric case of productive cough caused by novel variants in DNAH9Kazuhiko Takeuchi0Yifei Xu1Satoru Ogawa2Makoto Ikejiri3Kaname Nakatani4Shimpei Gotoh5Satoko Usui6Sawako Masuda7Mizuho Nagao8Takao Fujisawa9Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of MedicineDepartment of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of MedicineElectron Microscopy Research Center, Mie University Graduate School of MedicineDepartment of Central Laboratories, Mie University HospitalDepartment of Genomic Medicine, Mie University HospitalDepartment of Drug Discovery for Lung Diseases, Graduate School of Medicine, Kyoto UniversityDepartment of Otorhinolaryngology, National Hospital Organization Mie National HospitalDepartment of Otorhinolaryngology, National Hospital Organization Mie National HospitalInstitute for Clinical Research, National Hospital Organization Mie National HospitalInstitute for Clinical Research, National Hospital Organization Mie National HospitalAbstract 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]).https://doi.org/10.1038/s41439-020-00134-6 |
| spellingShingle | Kazuhiko Takeuchi Yifei Xu Satoru Ogawa Makoto Ikejiri Kaname Nakatani Shimpei Gotoh Satoko Usui Sawako Masuda Mizuho Nagao Takao Fujisawa A pediatric case of productive cough caused by novel variants in DNAH9 Human Genome Variation |
| title | A pediatric case of productive cough caused by novel variants in DNAH9 |
| title_full | A pediatric case of productive cough caused by novel variants in DNAH9 |
| title_fullStr | A pediatric case of productive cough caused by novel variants in DNAH9 |
| title_full_unstemmed | A pediatric case of productive cough caused by novel variants in DNAH9 |
| title_short | A pediatric case of productive cough caused by novel variants in DNAH9 |
| title_sort | pediatric case of productive cough caused by novel variants in dnah9 |
| url | https://doi.org/10.1038/s41439-020-00134-6 |
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