A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing.

フォーマット:

論文

責任表示:

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 ; 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

言語:

英語

出版情報:

Japan Atherosclerosis Society = 日本動脈硬化学会, 2016-07-01

著者名:

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

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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掲載情報:

Journal of Atherosclerosis and Thrombosis

ISSN:

1340-3478      

巻:

23

通号:

7

開始ページ:

884

終了ページ:

890

バージョン:

publisher

概要:

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 hypercholestero … lemia 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.<br />出版者照会後に全文公開 続きを見る

URL:

http://hdl.handle.net/2297/48532