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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Autores principales: Takeuchi, Kazuhiko, Xu, Yifei, Ogawa, Satoru, Ikejiri, Makoto, Nakatani, Kaname, Gotoh, Shimpei, Usui, Satoko, Masuda, Sawako, Nagao, Mizuho, Fujisawa, Takao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7810879/
https://www.ncbi.nlm.nih.gov/pubmed/33452233
http://dx.doi.org/10.1038/s41439-020-00134-6
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author Takeuchi, Kazuhiko
Xu, Yifei
Ogawa, Satoru
Ikejiri, Makoto
Nakatani, Kaname
Gotoh, Shimpei
Usui, Satoko
Masuda, Sawako
Nagao, Mizuho
Fujisawa, Takao
author_facet Takeuchi, Kazuhiko
Xu, Yifei
Ogawa, Satoru
Ikejiri, Makoto
Nakatani, Kaname
Gotoh, Shimpei
Usui, Satoko
Masuda, Sawako
Nagao, Mizuho
Fujisawa, Takao
author_sort Takeuchi, Kazuhiko
collection PubMed
description 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]).
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spelling pubmed-78108792021-01-21 A pediatric case of productive cough caused by novel variants in DNAH9 Takeuchi, Kazuhiko Xu, Yifei Ogawa, Satoru Ikejiri, Makoto Nakatani, Kaname Gotoh, Shimpei Usui, Satoko Masuda, Sawako Nagao, Mizuho Fujisawa, Takao Hum Genome Var Data Report 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]). Nature Publishing Group UK 2021-01-15 /pmc/articles/PMC7810879/ /pubmed/33452233 http://dx.doi.org/10.1038/s41439-020-00134-6 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Takeuchi, Kazuhiko
Xu, Yifei
Ogawa, Satoru
Ikejiri, Makoto
Nakatani, Kaname
Gotoh, Shimpei
Usui, Satoko
Masuda, Sawako
Nagao, Mizuho
Fujisawa, Takao
A pediatric case of productive cough caused by novel variants in DNAH9
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
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7810879/
https://www.ncbi.nlm.nih.gov/pubmed/33452233
http://dx.doi.org/10.1038/s41439-020-00134-6
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