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A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing.
https://doi.org/10.24517/00014455
https://doi.org/10.24517/000144553636ed8a-ef27-45b0-a319-66a299b2f121
名前 / ファイル | ライセンス | アクション |
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ME-PR-YAMAGISHI-M-884.pdf (1.2 MB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2018-05-10 | |||||
タイトル | ||||||
タイトル | A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing. | |||||
言語 | ||||||
言語 | eng | |||||
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 | |||||
ID登録 | ||||||
ID登録 | 10.24517/00014455 | |||||
ID登録タイプ | JaLC | |||||
著者 |
Tada, Hayato
× Tada, Hayato× Kawashiri, Masa-aki× Okada, Hirofumi× Endo, Saori× Toyoshima, Yuka× Konno, Tetsuo× Nohara, Atsushi× Inazu, Akihiro× Takao, Akira× Mabuchi, Hiroshi× Yamagishi, Masakazu× Hayashi, Kenshi |
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著者別表示 |
多田, 隼人
× 多田, 隼人× 川尻, 剛照× 今野, 哲雄× 野原, 淳× 稲津, 明広× 馬渕, 宏× 山岸, 正和× 林, 研至 |
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書誌情報 |
Journal of Atherosclerosis and Thrombosis 巻 23, 号 7, p. 884-890, 発行日 2016-07-01 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 1340-3478 | |||||
NCID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA11018976 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.5551/jat.34827 | |||||
出版者 | ||||||
出版者 | Japan Atherosclerosis Society = 日本動脈硬化学会 | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Whole exome sequencing (WES) technologies have accelerated genetic studies of Mendelian disorders, yielding approximately 30% diagnostic success. We encountered a 13-year-old Japanese female initially diagnosed with familial hypercholesterolemia on the basis of clinical manifestations of severe hypercholesterolemia (initial LDL cholesterol=609 mg/dl at the age of one) and systemic intertriginous xanthomas with histories of recurrent self-limiting episodes of fever and arthritis. Both her phenotypes seemed to co-segregate in a recessive manner. We performed WES on this patient, who was considered a proband. Among 206,430 variants found in this individual, we found 18,220 nonsense, missense, or splice site variants, of which 3,087 were rare (minor allele frequency ≤ 0.01 or not reported) in 1000 Genome (Asian population). Filtering by assuming a recessive pattern of inheritance with the use of an in silico annotation prediction tool, we successfully narrowed down the candidates to the compound heterozygous mutations in the ABCG5 gene (c.1256G>A or p.Arg419His/c.1763-1G>A [splice acceptor site]) and to the double-compound heterozygous mutations in the MEFV gene (c.329T>C/C or p.Leu110Pro/c.442G>C/C or p.Glu148Val). The patient was genetically diagnosed with sitosterolemia and familial Mediterranean fever using WES for the first time. Such a comprehensive approach is useful for identifying causative mutations for multiple unrelated inheritable diseases. | |||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 出版者照会後に全文公開 | |||||
権利 | ||||||
権利情報 | Copyright © Japan Atherosclerosis Society 日本動脈硬化学会 (CC-BY NC SA) | 本論文の著作権は日本動脈硬化学会が保持しています | |||||
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 | |||||
関連URI | ||||||
識別子タイプ | URI | |||||
関連識別子 | http://www.j-athero.org/en/index.html | |||||
関連URI | ||||||
識別子タイプ | URI | |||||
関連識別子 | https://www.jstage.jst.go.jp/browse/jat |