| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2018-05-10 |
| タイトル |
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タイトル |
A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing. |
| 言語 |
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言語 |
eng |
| 資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
| ID登録 |
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ID登録 |
10.24517/00014455 |
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ID登録タイプ |
JaLC |
| 著者 |
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
|
| 著者別表示 |
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 |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
1340-3478 |
| NCID |
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収録物識別子タイプ |
NCID |
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収録物識別子 |
AA11018976 |
| DOI |
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関連タイプ |
isIdenticalTo |
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識別子タイプ |
DOI |
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関連識別子 |
10.5551/jat.34827 |
| 出版者 |
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出版者 |
Japan Atherosclerosis Society = 日本動脈硬化学会 |
| 抄録 |
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内容記述タイプ |
Abstract |
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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 |
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内容記述タイプ |
Other |
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内容記述 |
出版者照会後に全文公開 |
| 権利 |
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|
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 |
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出版タイプ |
VoR |
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出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 関連URI |
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識別子タイプ |
URI |
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関連識別子 |
http://www.j-athero.org/en/index.html |
| 関連URI |
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識別子タイプ |
URI |
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関連識別子 |
https://www.jstage.jst.go.jp/browse/jat |
ME-PR-YAMAGISHI-M-884.pdf (1.2 MB)
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