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Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review
http://hdl.handle.net/10069/00041975
http://hdl.handle.net/10069/000419753d866096-a714-4666-b974-2381e4009726
名前 / ファイル | ライセンス | アクション |
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JCM12_317.pdf (4.3 MB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2023-01-19 | |||||
タイトル | ||||||
タイトル | Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | ciliary beat frequency | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | ciliary beat amplitude | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | high-speed video microscopy analysis | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | primary ciliary dyskinesia | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | SPEF2 | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
Mori, Mayako
× Mori, Mayako× Kido, Takashi× Sakamoto, Noriho× Ozasa, Mutsumi× Kido, Kumiko× Noguchi, Yasuko× Tokito, Takatomo× Okuno, Daisuke× Yura, Hirokazu× Hara, Atsuko× Ishimoto, Hiroshi× Suematsu, Takashi× Obase, Yasushi× Tanaka, Yoshimasa× Izumikawa, Koichi× Takeuchi, Kazuhiko× Mukae, Hiroshi |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Primary ciliary dyskinesia (PCD) is a genetic and congenital disease associated with an abnormal ciliary ultrastructure and function and is estimated to affect 1 in 15,000–20,000 individuals. A PCD diagnosis can be achieved by genotyping. Here, we performed whole-exome analysis for the diagnosis of PCD and described the detailed clinical characteristics of the case. A 39-year-old Japanese woman with sinusitis and bronchiectasis without situs inversus had had upper and lower respiratory symptoms since childhood and had received long-term macrolide therapy without an accurate diagnosis. A moderate deterioration of cilia function was observed by high-speed video microscopy analysis; additionally, the number of cells with moving cilia was fewer than that in patients without PCD. Electron microscopy revealed no apparent structural abnormalities. We performed whole-exome analysis and identified novel biallelic variants of SPEF2 in the homozygous state (c.1860_1861insCT).We confirmed the absence of SPEF2 protein expression in the cilia of the nasal mucosa using fluorescent immunostaining. Accordingly, she was diagnosed as having PCD with the SPEF2 variant. The present case suggests that the deterioration of cilia function is moderate, the number of respiratory cells with moving cilia might be reduced, and the respiratory condition could be severe in patients with PCD with the SPEF2 variant. |
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書誌情報 |
Journal of Clinical Medicine 巻 12, 号 1, p. 317, 発行日 2022-12-31 |
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出版者 | ||||||
出版者 | MDPI | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 2077-0383 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.3390/jcm12010317 | |||||
権利 | ||||||
権利情報 | © 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Journal of Clinical Medicine, 12(1), art. no. 317; 2022 |