文献

J-GLOBAL ID：202202253429053315   整理番号：22A0627086

QRICH1関連神経発達障害の臨床および分子スペクトル【JST・京大機械翻訳】

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

著者 (81件)： Kumble Smitha (Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Australia) ,  Levy Amanda M. (Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark) ,  Punetha Jaya (Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA) ,  Punetha Jaya (Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, USA) ,  Gao Hua (Department of Review Analysis, GeneDx LLC, Maryland, USA) ,  Ah Mew Nicholas (Rare Disease Institute, Children’s National Hospital, Washington, District of Columbia, USA) ,  Anyane-Yeboa Kwame (Department of Pediatrics, Columbia University Irving Medical Center, New York City, New York, USA) ,  Benke Paul J. (Division of Genetics, Joe DiMaggio Children’s Hospital, Hollywood, Florida, USA) ,  Berger Sara M. (Department of Pediatrics, Columbia University Irving Medical Center, New York City, New York, USA) ,  Bjerglund Lise (Department of Pediatrics, University Hospital Hvidovre, Hvidovre, Denmark) ,  Campos-Xavier Belinda (Medical Genetics Unit, Hospital Pediatrico, Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal) ,  Campos-Xavier Belinda (Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne (CHUV), Lausanne, Switzerland) ,  Ciliberto Michael (Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA) ,  Cohen Julie S. (Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA) ,  Cohen Julie S. (Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA) ,  Comi Anne M. (Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA) ,  Comi Anne M. (Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA) ,  Curry Cynthia (Deptartment of Pediatrics, Genetic Medicine, UCSF/Fresno, Fresno, California, USA) ,  Damaj Lena (Service de pediatrie et de genetique clinique, CHU Rennes, Rennes, France) ,  Denomme-Pichon Anne-Sophie (INSERM UMR1231 Equipe GAD, Universite de Bourgogne, Dijon, France) ,  Denomme-Pichon Anne-Sophie (Unite Fonctionnelle Innovation en Diagnostic genomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France) ,  Emrick Lisa (Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA) ,  Emrick Lisa (Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA) ,  Faivre Laurence (Centre de Reference Anomalies du Developpement et Syndromes Malformatifs, FHU TRANSLAD, Hopital d’Enfants, CHU Dijon, Dijon, France) ,  Faivre Laurence (Inserm UMR1231 GAD, Genetique des Anomalies du Developpement, Universite de Bourgogne, Dijon, France) ,  Fasano Mary Beth (Internal Medicine & Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA) ,  Fievet Alice (Laboratoire de biologie medicale multisites Seqoia-FMG2025, Paris, France) ,  Fievet Alice (Service Genetique des Tumeurs, Gustave Roussy, Villejuif, France) ,  Finkel Richard S. (Nemours Children’s Hospital, Orlando, Florida, USA) ,  Finkel Richard S. (Center for Experimental Neurotherapeutics, St. Jude Children’s Research Hospital, Memphis, Tennessee, USA) ,  Garcia-Minaur Sixto (Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Idipaz, Madrid, Spain) ,  Garcia-Minaur Sixto (Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER, U753), Instituto Carlos III, Madrid, Spain) ,  Gerard Amanda (Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA) ,  Gerard Amanda (Texas Children’s Hospital, Houston, Texas, USA) ,  Gomez-Puertas Paulino (Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBMSO, CSIC-UAM), Madrid, Spain) ,  Guillen Sacoto Maria J. (Clinical Genomics Program, GeneDx, Maryland, USA) ,  Hoffman Trevor L. (Regional Department of Genetics, Southern California Kaiser Permanente Medical Group, Pasadena, California, USA) ,  Howard Lillian (Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA) ,  Iglesias Alejandro D. (Division of Clinical Genetics, Columbia University Irving Medical Center, New York City, New York, USA) ,  Izumi Kosuke (Divison of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA) ,  Larson Austin (Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA) ,  Leiber Anja (Department of Neuropediatrics, Childrens Hospital of Eastern Switzerland St. Gallen, St. Gallen, Switzerland) ,  Lozano Reymundo (Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, USA) ,  Marcos-Alcalde Inigo (Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBMSO, CSIC-UAM), Madrid, Spain) ,  Marcos-Alcalde Inigo (Biosciences Research Institute, School of Experimental Sciences, Universidad Francisco de Vitoria, Pozuelo de Alarcon, Madrid, Spain) ,  Mintz Cassie S. (Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, USA) ,  Mullegama Sureni V. (Clinical Genomics Program, GeneDx, Maryland, USA) ,  Moller Rikke S. (Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark) ,  Moller Rikke S. (Department of Regional Health Research, University of Southern Denmark, Odense, Denmark) ,  Odent Sylvie (CHU Rennes, Hopital Sud, Service de Genetique Clinique, Univ Rennes, CNRS IGDR UMR 6290, Centre de reference Anomalies du developpement CLAD-Ouest, ERN ITHACA, Rennes, France) ,  Oppermann Henry (Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany) ,  Ostergaard Elsebet (Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark) ,  Ostergaard Elsebet (Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark) ,  Pacio-Miguez Marta (Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Idipaz, Madrid, Spain) ,  Palomares-Bralo Maria (Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Idipaz, Madrid, Spain) ,  Palomares-Bralo Maria (Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER, U753), Instituto Carlos III, Madrid, Spain) ,  Parikh Sumit (Mitochondrial Medicine & Neurogenetics, Cleveland Clinic, Cleveland, Ohio, USA) ,  Paulson Anna M. (Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA) ,  Platzer Konrad (Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany) ,  Posey Jennifer E. (Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA) ,  Potocki Lorraine (Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA) ,  Potocki Lorraine (Texas Children’s Hospital, Houston, Texas, USA) ,  Revah-Politi Anya (Institute for Genomic Medicine, Columbia University Medical Center, New York City, New York, USA) ,  Revah-Politi Anya (Precision Genomics Laboratory, Columbia University Irving Medical Center, New York City, New York, USA) ,  Rio Marlene (Service de Genetique, Hopital Necker-Enfants Malades, Assistance Publique-Hopitaux de Paris (APHP), Paris, France) ,  Ritter Alyssa L. (Divison of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA) ,  Robinson Scott (Department of Pediatrics, Columbia University Irving Medical Center, New York City, New York, USA) ,  Rosenfeld Jill A. (Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA) ,  Rosenfeld Jill A. (Baylor Genetics Laboratories, Houston, Texas, USA) ,  Santos-Simarro Fernando (Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Idipaz, Madrid, Spain) ,  Santos-Simarro Fernando (Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER, U753), Instituto Carlos III, Madrid, Spain) ,  Sousa Sergio B. (Medical Genetics Unit, Hospital Pediatrico, Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal) ,  Sousa Sergio B. (University Clinic of Genetics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal) ,  Undiagnosed Diseases Network ,  Weber Mathys (Centre de Reference Anomalies du Developpement et Syndromes Malformatifs, FHU TRANSLAD, Hopital d’Enfants, CHU Dijon, Dijon, France) ,  Xie Yili (Clinical Genomics Program, GeneDx, Maryland, USA) ,  Chung Wendy K. (Department of Pediatrics, Columbia University Irving Medical Center, New York City, New York, USA) ,  Brown Natasha J. (Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Australia) ,  Brown Natasha J. (Department of Paediatrics, Royal Children’s Hospital, University of Melbourne, Melbourne, Australia) ,  Tuemer Zeynep (Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark) ,  Tuemer Zeynep (Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark)
資料名： Human Mutation  (Human Mutation)
巻： 43  号： 2  ページ： 266-282  発行年： 2022年 
JST資料番号： W2601A  ISSN： 1059-7794  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： QRICH1(グルタミンリッチ蛋白質1)のde novo変異体は,最近,知的障害(ID)の11の個人で報告されている。QRICH1の機能はほとんど知られていないが,プロテオスタシスの転写調節による小胞体ストレスの変性応答において重要な役割を担っているようである。本研究では,27の付加的個体を提示し,QRICH1変異体を有する個体(n=38)の臨床および分子スペクトルを明らかにした。主な臨床的特徴は,軽度から中等度の発育遅延/ID(71%),非特異的顔面異形性(92%)および緊張低下(39%)であった。更なる所見は,悪い体重増加(29%),短い身長(29%),自閉症スペクトラム障害(29%),発作(24%)および脊柱側弯症(18%)を含んだ。脳イメージングの個体の52%で軽度の構造的脳異常が報告された。切断またはスプライス変異体が28個体で見出され,10がミスセンス変異体であった。4つの変異体を,軽度に影響を受けた親から継承した。この研究は,ヘテロ接合QRICH1変異体が,短い身長を含む神経発達障害を生じ,表現型スペクトルを拡張し,悪い体重増加,脊柱側弯症,低血圧症,小さな構造的脳異常および発作を含むことを確認した。軽度に影響を受けた親からの遺伝性変異体を初めて報告し,可変発現性を示唆した。Copyright 2022 Wiley Publishing Japan K.K. All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： ヘテロ接合 ,  遺伝 ,  タンパク質 ,  表現型 ,  *スペクトル ,  *神経系疾患 ,  体重増加 ,  知能障害 ,  脊柱側弯症 ,  発作 ,  *精神障害 ,  ミスセンス突然変異 ,  身長
準シソーラス用語： 成長遅延 ,  転写調節 ,  自閉症スペクトラム障害 ,  *神経発達障害 , 【Automatic Indexing@JST】

著者キーワード (6件)： 低緊張症 ,  知的障害 ,  QRICH1 ,  低身長 ,  可変表現性 ,  変異体

分類 (2件)： 精神障害  (GR03000A) ,  神経系の疾患  (GN03000O)

タイトルに関連する用語 (3件)： 神経発達障害 ,  臨床 ,  分子スペクトル