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J-GLOBAL ID：201702270750196429   整理番号：17A1433381

分離および症候性成長遅滞/知的障害のコホートにおけるコピー数変異体解析は新規ゲノム疾患,位置効果と候補疾患遺伝子を明らかにする【Powered by NICT】

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

著者 (58件)： Di Gregorio E. (University of Torino, Department of Medical Sciences, Turin, Italy) ,  Di Gregorio E. (Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy) ,  Riberi E. (Department of Public Health and Pediatrics, University of Torino, Turin, Italy) ,  Belligni E.F. (Department of Public Health and Pediatrics, University of Torino, Turin, Italy) ,  Biamino E. (Department of Public Health and Pediatrics, University of Torino, Turin, Italy) ,  Spielmann M. (Research Group Mundlos, Max Planck Institute for Molecular Genetics, Berlin, Germany) ,  Ala U. (Computational Biology Unit, Molecular Biotechnology Center (MBC), Turin, Italy) ,  Ala U. (Department of Molecular Biotechnology and Health Sciences, University of Torino, Turin, Italy) ,  Calcia A. (University of Torino, Department of Medical Sciences, Turin, Italy) ,  Bagnasco I. (Neuropsichiatria Infantile, Martini Hospital, ASL TO1, Turin, Italy) ,  Carli D. (University of Torino, Department of Medical Sciences, Turin, Italy) ,  Gai G. (Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy) ,  Giordano M. (Department of Health Sciences, Laboratory of Genetics, University of Eastern Piedmont and Interdisciplinary Research Center of Autoimmune Diseases, Novara, Italy) ,  Guala A. (SOC Pediatria, Castelli Hospital, Verbania, Italy) ,  Keller R. (Mental Health Department, ASL TO2, Adult Autism Center, Turin, Italy) ,  Mandrile G. (Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy) ,  Mandrile G. (Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano (TO), Italy) ,  Arduino C. (Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy) ,  Maffe A. (Molecular Biology and Genetics Unit, Santa Croce e Carle Hospital, Cuneo, Italy) ,  Naretto V.G. (Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy) ,  Sirchia F. (Molecular Biology and Genetics Unit, Santa Croce e Carle Hospital, Cuneo, Italy) ,  Sorasio L. (Pediatrics, Santa Croce e Carle Hospital, Cuneo, Italy) ,  Ungari S. (Molecular Biology and Genetics Unit, Santa Croce e Carle Hospital, Cuneo, Italy) ,  Zonta A. (Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy) ,  Zacchetti G. (Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy) ,  Zacchetti G. (Department of Health Sciences, Laboratory of Genetics, University of Eastern Piedmont and Interdisciplinary Research Center of Autoimmune Diseases, Novara, Italy) ,  Talarico F. (Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy) ,  Pappi P. (Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy) ,  Cavalieri S. (University of Torino, Department of Medical Sciences, Turin, Italy) ,  Giorgio E. (University of Torino, Department of Medical Sciences, Turin, Italy) ,  Mancini C. (University of Torino, Department of Medical Sciences, Turin, Italy) ,  Ferrero M. (University of Torino, Department of Medical Sciences, Turin, Italy) ,  Brussino A. (University of Torino, Department of Medical Sciences, Turin, Italy) ,  Savin E. (Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy) ,  Gandione M. (Department of Neuropsychiatry, University of Torino, Turin, Italy) ,  Pelle A. (Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano (TO), Italy) ,  Pelle A. (Department of Clinical and Biological Sciences, University of Torino, Turin, Italy) ,  Giachino D.F. (Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano (TO), Italy) ,  Giachino D.F. (Department of Clinical and Biological Sciences, University of Torino, Turin, Italy) ,  De Marchi M. (Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano (TO), Italy) ,  De Marchi M. (Department of Clinical and Biological Sciences, University of Torino, Turin, Italy) ,  Restagno G. (Laboratory of Molecular Genetics, Citta della Salute e della Scienza University Hospital, Turin, Italy) ,  Provero P. (Computational Biology Unit, Molecular Biotechnology Center (MBC), Turin, Italy) ,  Provero P. (Department of Molecular Biotechnology and Health Sciences, University of Torino, Turin, Italy) ,  Cirillo Silengo M. (Department of Public Health and Pediatrics, University of Torino, Turin, Italy) ,  Grosso E. (Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy) ,  Buxbaum J.D. (Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York) ,  Buxbaum J.D. (Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York) ,  Buxbaum J.D. (Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York) ,  Buxbaum J.D. (Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York) ,  Buxbaum J.D. (Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York) ,  Buxbaum J.D. (Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York) ,  Pasini B. (Molecular Biology and Genetics Unit, Santa Croce e Carle Hospital, Cuneo, Italy) ,  De Rubeis S. (Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York) ,  De Rubeis S. (Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York) ,  Brusco A. (University of Torino, Department of Medical Sciences, Turin, Italy) ,  Brusco A. (Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy) ,  Ferrero G.B. (Department of Public Health and Pediatrics, University of Torino, Turin, Italy)
資料名： Clinical Genetics  (Clinical Genetics)
巻： 92  号： 4  ページ： 415-422  発行年： 2017年 
JST資料番号： E0526B  ISSN： 0009-9163  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： アメリカ合衆国 (USA)  言語： 英語 (EN)

抄録/ポイント： 背景:アレイ比較ゲノムハイブリダイゼーション(アレイCGH)は,発育遅延/知的障害(DD/ID)に関連したコピー数多型(CNV)を検出するために広く使用されている技術である。目的:DD/IDにおけるゲノム異常の同定。材料と方法:CNVの病原性を評価するために,著者らは,DD/IDおよび複合文献マイニング,遺伝学的証拠,進化的制約スコア,および機能的情報を伴う連続1,015症例の包括的アレイCGH研究を行った。【結果】著者らは29%の患者で非良性CNVsを同定した。病原性変異体(11%),文献と一致する収率で検出された中で,稀なゲノム障害とCNV既知疾患遺伝子を見出した。新規候補遺伝子に及ぶと考えられる病原性CNV51例,シナプス成分をコードする遺伝子および/または皮質形成に関与する蛋白質を同定し,議論した。さらに,調節景観におそらく影響する可能性トポロジカル関連ドメイン(TAD)境界にまたがる二欠失を同定した。考察と結論:著者らは,アレイCGHデータの表現型および遺伝的分析は,複雑な例を解明する,稀な疾患遺伝子を同定し,予想外の位置効果の明白化を可能とするかを示した。Copyright 2017 Wiley Publishing Japan K.K. All Rights reserved. Translated from English into Japanese by JST.【Powered by NICT】

シソーラス用語： *コピー数 ,  *遺伝 ,  患者 ,  病原性 ,  *ゲノム ,  *知能障害 ,  タンパク質 ,  遺伝学 ,  表現型 ,  *遺伝子
準シソーラス用語： 候補遺伝子 ,  ゲノム異常 ,  アレイCGH ,  *疾患遺伝子 ,  *位置効果 , 【Automatic Indexing@JST】

著者キーワード (6件)： アレイCGH ,  自閉症スペクトラム障害 ,  CNV ,  発育遅延 ,  ゲノム障害 ,  知的障害

分類 (1件)： 遺伝的変異  (EC01030Y)

タイトルに関連する用語 (11件)： 症候 ,  成長 ,  知的障害 ,  コホート ,  コピー数 ,  変異体 ,  解析 ,  ゲノム ,  疾患 ,  位置効果 ,  疾患遺伝子