ID | 62390 |
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著者 |
Hasegawa, Kosei
Department of Pediatrics, Okayama University Hospital
ORCID
Kaken ID
publons
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Tanaka, Hiroyuki
Department of Pediatrics, Okayama University Hospital
Futagawa, Natsuko
Department of Pediatrics, Okayama University Hospital
Higuchi, Yousuke
Department of Pediatrics, Okayama University Hospital
Tsukahara, Hirokazu
Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Kaken ID
publons
researchmap
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抄録 | Pathogenic-activating variants of interferon induced with Helicase C domain 1 (IFIH1) cause Singleton-Merten (S-M) syndrome, which accompanies acro-osteolysis, loss of permanent teeth, and aortic calcification, as well as causing Aicardi-Goutières (A-G) syndrome, which shows progressive encephalopathy, spastic paraplegia, and calcification of basal ganglia. Recently, patients with overlapping syndromes presenting with features of S-M syndrome and A-G syndrome were reported. However, progression of clinical features of this condition has not been fully understood. We report a Japanese boy with a novel pathogenic IFIH1 variant who presented with clinical features of S-M syndrome and A-G syndrome.
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備考 | This is the peer reviewed version of the following article: [Hasegawa, K., Tanaka, H., Futagawa, N., Miyahara, H., Higuchi, Y., & Tsukahara, H. (2021). A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton-Merten syndrome and Aicardi-Goutières syndrome. American Journal of Medical Genetics Part A, 188A: 249– 252. ], which has been published in final form at [https://doi.org/10.1002/ajmg.a.62478]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages there of by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.
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発行日 | 2021-8-28
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出版物タイトル |
American Journal of Medical Genetics Part A
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巻 | 188A巻
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出版者 | Wiley
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開始ページ | 249
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終了ページ | 252
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ISSN | 1552-4825
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NCID | AA11815067
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資料タイプ |
学術雑誌論文
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言語 |
英語
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OAI-PMH Set |
岡山大学
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著作権者 | © 2021 Wiley Periodicals LLC.
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論文のバージョン | author
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DOI | |
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関連URL | isVersionOf https://doi.org/10.1002/ajmg.a.62478
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Citation | Hasegawa, K., Tanaka, H., Futagawa, N., Miyahara, H., Higuchi, Y., & Tsukahara, H. (2021). A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton-Merten syndrome and Aicardi-Goutières syndrome. American Journal of Medical Genetics Part A, 188A: 249– 252. https://doi.org/10.1002/ajmg.a.62478
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助成機関名 |
Japan Agency for Medical Research and Development (AMED)
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