文献

J-GLOBAL ID：202102271480647104   整理番号：21A2423632

CHD4関連症候群: 臨床スペクトル,遺伝子型-表現型相関および分子基盤の包括的研究【JST・京大機械翻訳】

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

著者 (57件)： Weiss Karin (The Genetics Institute, Rambam Health Care Campus, Haifa, Israel) ,  Lazar Hayley P. (Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA) ,  Kurolap Alina (The Genetics Institute, Rambam Health Care Campus, Haifa, Israel) ,  Kurolap Alina (The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel) ,  Martinez Ariel F. (Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA) ,  Paperna Tamar (The Genetics Institute, Rambam Health Care Campus, Haifa, Israel) ,  Cohen Lior (Genetics Institute, Schneider Children’s Medical Center, Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel) ,  Smeland Marie F. (Department of Medical Genetics, University Hospital of North Norway, Tromso, Norway) ,  Whalen Sandra (UF de genetique clinique, Centre de Reference Maladies Rares des Anomalies du developpement et syndromes malformatifs, APHP, Hopital Trousseau, Paris, France) ,  Heide Solveig (AP-HP, Departement de Genetique, Centre de Reference Maladies Rares “Anomalies du developpement et syndromes malformatifs” Hopital de la Pitie Salpetriere, Paris, France) ,  Keren Boris (AP-HP, Departement de Genetique, Centre de Reference Maladies Rares “Anomalies du developpement et syndromes malformatifs” Hopital de la Pitie Salpetriere, Paris, France) ,  Terhal Pauline (Department of Genetics, Utrecht University Medical Center, Utrecht, the Netherlands) ,  Irving Melita (Department of Clinical Genetics, Guy’s Hospital, London, UK) ,  Takaku Motoki (Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA) ,  Roberts John D. (Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA) ,  Petrovich Robert M. (Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA) ,  Schrier Vergano Samantha A. (Division of Medical Genetics and Metabolism, Children’s Hospital of The King’s Daughters, Norfolk, VA, USA) ,  Schrier Vergano Samantha A. (Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA, USA) ,  Kenney Amy (Division of Medical Genetics and Metabolism, Children’s Hospital of The King’s Daughters, Norfolk, VA, USA) ,  Hove Hanne (Centre for Rare Diseases, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark) ,  DeChene Elizabeth (Division of Genomic Diagnostics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA) ,  Quinonez Shane C. (Department of Pediatrics, Division of Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA) ,  Colin Estelle (Department of Biochemistry and Genetics, University Hospital Angers, Angers, France) ,  Ziegler Alban (Department of Biochemistry and Genetics, University Hospital Angers, Angers, France) ,  Rumple Melissa (Banner Child Neurology, Glendale, AZ, USA) ,  Jain Mahim (Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA) ,  Jain Mahim (Bone and Osteogenesis Imperfecta Department, Kennedy Krieger Institute, Baltimore, MD, USA) ,  Monteil Danielle (Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA, USA) ,  Roeder Elizabeth R. (Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA) ,  Nugent Kimberly (Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA) ,  van Haeringen Arie (Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands) ,  Gambello Michael (Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA) ,  Santani Avni (Division of Genomic Diagnostics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA) ,  Medne Livija (Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA) ,  Krock Bryan (Division of Genomic Diagnostics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA) ,  Skraban Cara M. (Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA) ,  Zackai Elaine H. (Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA) ,  Dubbs Holly A. (Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA) ,  Smol Thomas (Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France) ,  Smol Thomas (EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France) ,  Ghoumid Jamal (Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France) ,  Ghoumid Jamal (EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France) ,  Parker Michael J. (Sheffield Children’s Hospital NHS Foundation Trust, Western Bank, Sheffield, UK) ,  Wright Michael (Northern Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK) ,  Turnpenny Peter (University of Exeter Medical School, Clinical Genetics Royal Devon & Exeter Hospital, Exeter, UK) ,  Clayton-Smith Jill (Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK) ,  Clayton-Smith Jill (Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK) ,  Metcalfe Kay (Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK) ,  Metcalfe Kay (Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK) ,  Kurumizaka Hitoshi (Laboratory of Structural Biology, Graduate School of Advanced Science & Engineering, Waseda University, Tokyo, Japan) ,  Gelb Bruce D. (Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA) ,  Baris Feldman Hagit (The Genetics Institute, Rambam Health Care Campus, Haifa, Israel) ,  Baris Feldman Hagit (The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel) ,  Campeau Philippe M. (Department of Pediatrics, University of Montreal and CHU Sainte-Justine, Montreal, QC, Canada) ,  Muenke Maximilian (Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA) ,  Wade Paul A. (Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA) ,  Lachlan Katherine (Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust. Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK)
資料名： Genetics in Medicine  (Genetics in Medicine)
巻： 22  号： 2  ページ： 389-397  発行年： 2020年 
JST資料番号： W1813A  ISSN： 1098-3600  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： ドイツ (DEU)  言語： 英語 (EN)

抄録/ポイント： 目的:Sifrim-Hitz-Weiss症候群(SIHIWES)は,CHD4におけるde novo変異体に起因する最近記述された多全身神経発達障害である。本研究では,障害の臨床スペクトル,遺伝子型-表現型相関,およびCHD4機能に対する異なるミスセンス変異体の影響を調べた。方法:次世代配列決定により同定されたCHD4のほとんどde novo変異体を有する32個体から臨床的および分子データを集めた。アデノシン三リン酸(ATP)加水分解とヌクレオソームリモデリングアッセイを5つの異なるCHD4ドメインからの変異体で行った。結果:大多数の参加者は,全体的発達遅延,軽度から中等度の知的障害,脳異常,先天性心臓欠損,および異形性の特徴を有していた。大頭症は高頻度であったが,普遍的な所見ではなかった。付加的な一般的異常は,男性,骨格および四肢異常,聴覚障害,および眼異常における性腺機能低下を含んだ。変異体の大部分は非切断であり,蛋白質のSNF2様領域に影響した。変異体のタイプまたは位置に基づく遺伝子型-表現型相関を同定しなかった。ATP加水分解とクロマチンリモデリング活性の変化は,異なるドメインからの変異体で観察された。結論:CHD4関連症候群は,多全身性神経発達障害である。異なる蛋白質ドメインにおけるミスセンス置換は,変異特異的様式でCHD4機能を変化させるが,ヒトでは同様の表現型を生じる。Copyright American College of Medical Genetics and Genomics 2019 Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： 加水分解 ,  タンパク質 ,  ヒト ,  *表現型 ,  *スペクトル ,  聴覚障害 ,  ヌクレオソーム ,  知能障害 ,  先天性心疾患 ,  ミスセンス突然変異 ,  性腺機能低下症
準シソーラス用語： クロマチンリモデリング ,  リモデリング ,  神経発達障害 ,  ATP加水分解 , 【Automatic Indexing@JST】

著者キーワード (5件)： クロマチンリモデリング ,  ATPase ,  ミスセンス ,  知的障害 ,  12p13.31

分類 (1件)： 先天性疾患・奇形一般  (GD03010V)

タイトルに関連する用語 (8件)： 症候群 ,  臨床 ,  スペクトル ,  遺伝子型 ,  表現型相関 ,  分子 ,  基盤 ,  研究