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A Mutation in PDGFRB in a Family with Infantile Myofibromatosis
http://hdl.handle.net/10069/39547
http://hdl.handle.net/10069/395479c762cca-fd54-4098-aacf-f83edcf854c3
名前 / ファイル | ライセンス | アクション |
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ActMed63_49.pdf (596.1 kB)
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2019-11-15 | |||||
タイトル | ||||||
タイトル | A Mutation in PDGFRB in a Family with Infantile Myofibromatosis | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | autosomal dominant inheritance | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | infantile myofibromatosis | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | PDGFRB | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | whole exome sequencing | |||||
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 | departmental bulletin paper | |||||
著者 |
Ito, Nobuhiro
× Ito, Nobuhiro× Watanabe, Satoshi× Mishima, Hiroyuki× Kinoshita, Akira× Okada, Masahiko× Moriuchi, Hiroyuki× Yoshiura, Koh-ichiro |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Infantile myofibromatosis (IM) is a benign fibrous tumor of infancy and childhood. A genome-wide linkage analysis and wholeexome sequencing were performed on a pedigree of familial cases, and a mutation in exon 12 of the gene for platelet-derived growth factor receptor beta (PDGFRB) (NM_002609), c.1681C>T p.R561C was identified. This is the first case in a Japanese pedigree, and we detected the mutation of IM in the family by whole-exome sequencing supported by a genome-wide linkage analysis. A wide spectrum of phenotypes was observed among the affected family members despite all having the same mutation. Recently, an additional mutation on the gene for receptor protein tyrosine phosphatase gamma (PTPRG), an enzyme dephosphorylating PDGFRB, was proposed to explain the full phenotypic penetrance in the affected family members with the PDGFRB mutation. However, it is still hypothesized that an additional PDGFRB mutation develops to full activation of PDGFRB in cells that have been primed by p.R561C. The pedigree in this study showed a wide spectrum of phenotypes, suggesting that a second hit, such as with other mutations contributing to PDGFRB phosphorylation, would be necessary to induce IM. |
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書誌情報 |
Acta medica Nagasakiensia 巻 63, 号 1, p. 49-53, 発行日 2019-11 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 00016055 | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA00508430 | |||||
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 | |||||
出版者 | ||||||
出版者 | Nagasaki University School of Medicine | |||||
出版者別言語 | ||||||
長崎大学医学部 | ||||||
sortkey | ||||||
05 | ||||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Acta medica Nagasakiensia, 63(1), pp.49-53; 2019 |