クワバラ　ヒトシ   KUWABARA Hitoshi   桑原　斉    所属   埼玉医科大学  医学部 神経精神科・心療内科    職種   教授
論文種別	学術雑誌(原著)
言語種別	英語
査読の有無	査読あり
表題	Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing
掲載誌名	正式名：AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS ISSNコード：15524841
出版社	WILEY
巻・号・頁	174(7),712-723頁
著者・共著者	Yosuke Eriguchi,Hitoshi Kuwabara,Aya Inai,Yuki Kawakubo,Fumichika Nishimura,Chihiro Kakiuchi,Mamoru Tochigi,Jun Ohashi,Naoto Aoki,Kayoko Kato,Hiroyuki Ishiura,Jun Mitsui,Shoji Tsuji,Koichiro Doi,Jun Yoshimura,Shinichi Morishita,Takafumi Shimada,Masaomi Furukawa,Tadashi Umekage,Tsukasa Sasaki,Kiyoto Kasai,Yukiko Kano
発行年月	2017/10
概要	Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although there is a large genetic contribution, the genetic architecture of TS remains unclear. Exome sequencing has successfully revealed the contribution of de novo mutations in sporadic cases with neuropsychiatric disorders such as autism and schizophrenia. Here, using exome sequencing, we investigated de novo mutations in individuals with sporadic TS to identify novel risk loci and elucidate the genetic background of TS. Exome analysis was conducted for sporadic TS cases: nine trio families and one quartet family with concordant twins were investigated. Missense mutations were evaluated using functional prediction algorithms, and their population frequencies were calculated based on three public databases. Gene expression patterns in the brain were analyzed using the BrainSpan Developmental Transcriptome. Thirty de novo mutations, including four synonymous and four missense mutations, were identified. Among the missense mutations, one in the rapamycin-insensitive companion of mammalian target of rapamycin (RICTOR)-coding gene (rs140964083: G> A, found in one proband) was p
DOI	10.1002/ajmg.b.32559
PMID	28608572