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Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis
http://hdl.handle.net/2241/00159315
http://hdl.handle.net/2241/0015931551411cd0-f5e7-4d37-b096-8057f45a9be0
名前 / ファイル | ライセンス | アクション |
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MGGM_7-11 (628.4 kB)
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Item type | Journal Article(1) | |||||||||||||||||
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公開日 | 2020-01-17 | |||||||||||||||||
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言語 | en | |||||||||||||||||
タイトル | Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis | |||||||||||||||||
言語 | ||||||||||||||||||
言語 | eng | |||||||||||||||||
資源タイプ | ||||||||||||||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||||||||||||||
タイプ | journal article | |||||||||||||||||
著者 |
堀米, 仁志
× 堀米, 仁志× 村上, 卓× 山城, 義人
WEKO
204988
× 柳沢, 裕美
WEKO
139948
× Sugiyama, Kaori× Lin, Lisheng× Shiono, Junko× Matsuura, Hiroyuki× Yoda, Hitoshi |
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抄録 | ||||||||||||||||||
内容記述タイプ | Abstract | |||||||||||||||||
内容記述 | Background Supravalvular aortic stenosis (SVAS) is one of the congenital cardiovascular diseases characterized by stenosis of the aorta. The stenotic lesions occur anywhere above the aortic valve in the aortic tree as well as pulmonary arteries and eventually leads to circulatory failure. The disease gene has been identified on the elastin gene (ELN) and two types of SVAS have been categorized; a familial type and an isolated type with the de novo mutation. Methods Fluorescent In situ hybridization (FISH) analysis and gene sequencing were performed in a two‐generation family in which severe form of SVAS was diagnosed. Results None of the patients tested showed microdeletion of ELN, LIMK1, and D7S613. A novel nonsense mutation of ELN (c.160G>T (p.(Gly54*)), RNA not analyzed) was found in exon 3 in three members; two of them died suddenly due to rapid progression of SVAS with possible arrhythmia in early infancy. A point mutation in the 5’ untranslated region, which was previously suggested to be associated with SVAS, did not co‐segregate with the SVAS phenotype and found to be SNPs. Conclusion Our report shows a broad spectrum of clinical features in family members sharing the identical mutations, suggesting a potential contribution of modifier gene(s) or interactions with environmental factors. |
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書誌情報 |
en : Molecular Genetics & Genomic Medicine 巻 7, 号 11, p. e986, 発行日 2019-11 |
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ISSN | ||||||||||||||||||
収録物識別子タイプ | ISSN | |||||||||||||||||
収録物識別子 | 2324-9269 | |||||||||||||||||
PubMed番号 | ||||||||||||||||||
識別子タイプ | PMID | |||||||||||||||||
関連識別子 | 31560829 | |||||||||||||||||
DOI | ||||||||||||||||||
識別子タイプ | DOI | |||||||||||||||||
関連識別子 | 10.1002/mgg3.986 | |||||||||||||||||
権利 | ||||||||||||||||||
権利情報 | This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. | |||||||||||||||||
権利 | ||||||||||||||||||
権利情報 | © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. | |||||||||||||||||
著者版フラグ | ||||||||||||||||||
値 | publisher | |||||||||||||||||
出版者 | ||||||||||||||||||
出版者 | Wiley |