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KAKEN_17K10986seika.pdf
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Title |
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先天性側弯症に対する遺伝的解析による病態の解明
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センテンセイ ソクワンショウ ニ タイスル イデンテキ カイセキ ニ ヨル ビョウタイ ノ カイメイ
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Sentensei sokuwanshō ni taisuru identeki kaiseki ni yoru byōtai no kaimei
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Genetic analysis of causative factors for congenital scoliosis
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渡邉, 航太
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ワタナベ, コオタ
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Watanabe, Kōta
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慶應義塾大学・医学部 (信濃町) ・准教授
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Research team head
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科研費研究者番号 : 60317170
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武田, 和樹
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タケダ, カズキ
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Takeda, Kazuki
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慶應義塾大学・医学部 (信濃町) ・訪問研究員
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Research team member
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科研費研究者番号 : 50594735
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2020
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科学研究費補助金研究成果報告書
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2019
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先天性側弯症 (以下、CS) は脊椎の椎体の形成異常に起因する脊柱側弯症である。一方、脊椎肋骨異形成症 (以下、SCDO) は極めて稀な骨系統疾患で、肋骨や脊柱にCSよりもはるかに重篤な形成異常を引き起こす。共同研究グループは、CS 196例、SCDO 4例の日本人患者においてTBX6遺伝子の異常を調べた結果、TBX6を含む16番染色体の16p11.2の欠失例を5例、スプライスサイト変異を1例、ミスセンス変異を5例に同定した。さらに78例のCSに対して全エクソン解析を行い、78例中1例にLFNG遺伝子にミスセンス変異を発見し、CSの新規原因遺伝子であることを明らかにした。
We investigated the novel causal genes of congenital scoliosis (CS) and spondylocostal dysostosis (SCDO) in 200 patients by next generation sequencing. We identified null mutations in TBX6 in 18 CS and one SCDO patients and novel missense mutations in LFNG in one CS patient. In vitro functional assays revealed that not only deleterious mutations (deletion, frame-shift and nonsense mutations) but also missense mutations had loss of function by decreased transcriptional activities, enzyme activities or mis-localization of proteins. Bi-allelic loss of function mutations in TBX6 and LFNG caused a spectrum of malformation of spine and rib including CS and SCDO according to the severity of the loss of function.
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研究種目 : 基盤研究 (C) (一般)
研究期間 : 2017~2019
課題番号 : 17K10986
研究分野 : 整形外科 (脊椎外科)
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