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Title: Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations.
Authors: Oda, Hirotsugu
Nakagawa, Kenji
Abe, Junya
Awaya, Tomonari  kyouindb  KAKEN_id  orcid (unconfirmed)
Funabiki, Masahide
Hijikata, Atsushi
Nishikomori, Ryuta  kyouindb  KAKEN_id
Funatsuka, Makoto
Ohshima, Yusei
Sugawara, Yuji
Yasumi, Takahiro  kyouindb  KAKEN_id
Kato, Hiroki
Shirai, Tsuyoshi
Ohara, Osamu
Fujita, Takashi  kyouindb  KAKEN_id
Heike, Toshio
Author's alias: 小田, 紘嗣
西小森, 隆太
平家, 俊男
Issue Date: 3-Jul-2014
Publisher: Elsevier Inc.
Journal title: American journal of human genetics
Volume: 95
Issue: 1
Start page: 121
End page: 125
Abstract: Aicardi-Goutières syndrome (AGS) is a rare, genetically determined early-onset progressive encephalopathy. To date, mutations in six genes have been identified as etiologic for AGS. Our Japanese nationwide AGS survey identified six AGS-affected individuals without a molecular diagnosis; we performed whole-exome sequencing on three of these individuals. After removal of the common polymorphisms found in SNP databases, we were able to identify IFIH1 heterozygous missense mutations in all three. In vitro functional analysis revealed that IFIH1 mutations increased type I interferon production, and the transcription of interferon-stimulated genes were elevated. IFIH1 encodes MDA5, and mutant MDA5 lacked ligand-specific responsiveness, similarly to the dominant Ifih1 mutation responsible for the SLE mouse model that results in type I interferon overproduction. This study suggests that the IFIH1 mutations are responsible for the AGS phenotype due to an excessive production of type I interferon.
Description: アイカルディ・グチエール症候群の新規責任遺伝子IFIH1の同定. 京都大学プレスリリース. 2014-07-04.
Rights: © 2014 The American Society of Human Genetics. Published by Elsevier Inc.
この論文は出版社版でありません。引用の際には出版社版をご確認ご利用ください。This is not the published version. Please cite only the published version.
DOI(Published Version): 10.1016/j.ajhg.2014.06.007
PubMed ID: 24995871
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