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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Detalles Bibliográficos
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
Descripción
Sumario: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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