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J-GLOBAL ID：202202238478834405   整理番号：22A0449744

MYT1L関連神経発達障害:40の新しい症例の記述と臨床的および分子的側面の文献レビュー【JST・京大機械翻訳】

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

著者 (75件)： Coursimault Juliette (Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Rouen, France) ,  Guerrot Anne-Marie (Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Rouen, France) ,  Morrow Michelle M. (GeneDx, Gaithersburg, USA) ,  Schramm Catherine (Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Rouen, France) ,  Zamora Francisca Millan (GeneDx, Gaithersburg, USA) ,  Shanmugham Anita (GeneDx, Gaithersburg, USA) ,  Liu Shuxi (GeneDx, Gaithersburg, USA) ,  Zou Fanggeng (GeneDx, Gaithersburg, USA) ,  Bilan Frederic (Service de Genetique, Centre Hospitalier Universitaire de Poitiers, Poitiers, France) ,  Le Guyader Gwenaeel (Service de Genetique, Centre Hospitalier Universitaire de Poitiers, Poitiers, France) ,  Bruel Ange-Line (UMR1231 GAD, Inserm - Universite Bourgogne-Franche Comte, Dijon, France) ,  Bruel Ange-Line (Unite Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France) ,  Denomme-Pichon Anne-Sophie (UMR1231 GAD, Inserm - Universite Bourgogne-Franche Comte, Dijon, France) ,  Denomme-Pichon Anne-Sophie (Unite Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France) ,  Faivre Laurence (UMR1231 GAD, Inserm - Universite Bourgogne-Franche Comte, Dijon, France) ,  Faivre Laurence (Centre de Reference Anomalies du Developpement et Syndromes Malformatifs de l’Inter-Region est, FHU TRANSLAD, CHU Dijon-Bourgogne, Dijon, France) ,  Tran Mau-Them Frederic (UMR1231 GAD, Inserm - Universite Bourgogne-Franche Comte, Dijon, France) ,  Tran Mau-Them Frederic (Unite Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France) ,  Tessarech Marine (Service de Genetique Medicale, CHU d’Angers, Angers, France) ,  Colin Estelle (Service de Genetique Medicale, CHU d’Angers, Angers, France) ,  Colin Estelle (Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, ICAT, Angers, SFR, France) ,  El Chehadeh Salima (Service de Genetique Medicale, Institut de Genetique Medicale d’Alsace (IGMA), Hopitaux Universitaires de Strasbourg, Hopital de Hautepierre, Strasbourg, France) ,  Gerard Benedicte (Service de Genetique Medicale, Institut de Genetique Medicale d’Alsace (IGMA), Hopitaux Universitaires de Strasbourg, Hopital de Hautepierre, Strasbourg, France) ,  Schaefer Elise (Service de Genetique Medicale, Institut de Genetique Medicale d’Alsace (IGMA), Hopitaux Universitaires de Strasbourg, Hopital de Hautepierre, Strasbourg, France) ,  Cogne Benjamin (Service de Genetique Medicale, CHU Nantes, Nantes, France) ,  Isidor Bertrand (Service de Genetique Medicale, CHU Nantes, Nantes, France) ,  Nizon Mathilde (Service de Genetique Medicale, CHU Nantes, Nantes, France) ,  Doummar Diane (Hopital Trousseau, APHP.Sorbonne Universite, Paris, France) ,  Valence Stephanie (Hopital Trousseau, APHP.Sorbonne Universite, Paris, France) ,  Heron Delphine (Departement de Genetique, Groupe Hospitalier Pitie-Salpetriere-Hopital Trousseau Centre de Reference Deficiences Intellectuelles de Causes Rares, APHP.Sorbonne Universite, Paris, France) ,  Keren Boris (Departement de Genetique, Groupe Hospitalier Pitie-Salpetriere-Hopital Trousseau Centre de Reference Deficiences Intellectuelles de Causes Rares, APHP.Sorbonne Universite, Paris, France) ,  Mignot Cyril (Departement de Genetique, Groupe Hospitalier Pitie-Salpetriere-Hopital Trousseau Centre de Reference Deficiences Intellectuelles de Causes Rares, APHP.Sorbonne Universite, Paris, France) ,  Coutton Charles (Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, UMR 5309, CNRS, Universite Grenoble Alpes, Grenoble, France) ,  Devillard Francoise (Service de Genetique et Procreation, CHU Grenoble Alpes, Grenoble, France) ,  Alaix Anne-Sophie (Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France) ,  Amiel Jeanne (Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France) ,  Colleaux Laurence (Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France) ,  Munnich Arnold (Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France) ,  Poirier Karine (Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France) ,  Rio Marlene (Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France) ,  Rondeau Sophie (Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France) ,  Barcia Giulia (Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France) ,  Callewaert Bert (Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium) ,  Dheedene Annelies (Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium) ,  Kumps Candy (Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium) ,  Vergult Sarah (Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium) ,  Menten Bjorn (Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium) ,  Chung Wendy K. (Columbia University Irving Medical Center, New York, NY, USA) ,  Hernan Rebecca (Columbia University Irving Medical Center, New York, NY, USA) ,  Larson Austin (School of Medicine and Children’s Hospital, University of Colorado, Aurora, CO, USA) ,  Nori Kelly (School of Medicine and Children’s Hospital, University of Colorado, Aurora, CO, USA) ,  Stewart Sarah (School of Medicine and Children’s Hospital, University of Colorado, Aurora, CO, USA) ,  Wheless James (Division of Pediatric Neurology, University of Tennessee, Health Science Center, Memphis, USA) ,  Kresge Christina (Division of Clinical Genetics, Rutgers New Jersey Medical School, Newark, USA) ,  Pletcher Beth A. (Division of Clinical Genetics, Rutgers New Jersey Medical School, Newark, USA) ,  Caumes Roseline (Universite de Lille, CHU de Lille, Clinique de Genetique ≪ Guy Fontaine ≫, Lille, France) ,  Smol Thomas (Universite de Lille, CHU de Lille, Institut de Genetique Medicale, Lille, France) ,  Sigaudy Sabine (Departement de Genetique Medicale, Hopital Timone Enfant, Marseille, France) ,  Coubes Christine (Departement de Genetique Medicale, Maladies Rares et Medecine Personnalisee, CHU Montpellier, Montpellier, France) ,  Helm Margaret (Department of Pediatrics, Division of Genetics. Portland, Maine Medical Center, Maine, USA) ,  Smith Rosemarie (Department of Pediatrics, Division of Genetics. Portland, Maine Medical Center, Maine, USA) ,  Morrison Jennifer (Arnold Palmer Hospital, Orlando Health, Orlando, FL, USA) ,  Wheeler Patricia G. (Arnold Palmer Hospital, Orlando Health, Orlando, FL, USA) ,  Kritzer Amy (Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA, USA) ,  Jouret Guillaume (National Center of Genetics (NCG), Laboratoire National de Sante (LNS), Dudelange, Luxembourg) ,  Afenjar Alexandra (Centre de Reference Malformations et Maladies Congenitales du Cervelet et Deficiences Intellectuelles de Causes Rares, Departement de Genetique et Embryologie Medicale, APHP. Sorbonne Universite, Hopital Trousseau, Paris, France) ,  Deleuze Jean-Francois (Centre National de Recherche en Genomique Humaine (CNRGH), Universite Paris-Saclay, CEA, Evry, France) ,  Olaso Robert (Centre National de Recherche en Genomique Humaine (CNRGH), Universite Paris-Saclay, CEA, Evry, France) ,  Boland Anne (Centre National de Recherche en Genomique Humaine (CNRGH), Universite Paris-Saclay, CEA, Evry, France) ,  Poitou Christine (Service de Nutrition, Hopital de la Pitie Salpetriere - AP-HP, Paris, France) ,  Frebourg Thierry (Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Rouen, France) ,  Houdayer Claude (Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Rouen, France) ,  Saugier-Veber Pascale (Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Rouen, France) ,  Nicolas Gaeel (Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Rouen, France) ,  Lecoquierre Francois (Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Rouen, France)
資料名： Human Genetics  (Human Genetics)
巻： 141  号： 1  ページ： 65-80  発行年： 2022年 
JST資料番号： E0781B  ISSN： 0340-6717  CODEN： HUGEDQ  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： ミエリン転写因子1様(MYT1L)遺伝子の病原性変異体は,ヘテロ接合ミスセンス,切断変異体および2p25.3微小欠失を含み,症候性神経発達障害(OMIM#616,521)を引き起こす。いくつかの発達障害および自閉症研究におけるde novo変異の濃縮にもかかわらず,臨床的特徴および遺伝子型-表現型相関に関するデータは少なく,単一ヌクレオチド病原性変異体の22人の患者のみが報告されている。MYT1L関連神経発達障害の一連の患者を集めることにより,臨床的および分子レベルの両方でこの障害をさらに特性化することを目的とした。病原性/病原性MYT1L変異体の40名の未報告患者についての遺伝的情報を収集し,公表データ(合計=62名の患者)の包括的なレビューを行った。MYT1L関連障害の主な表現型特徴は,言語遅延(95%),知的障害(ID,70%),過体重または肥満(58%),行動障害(98%)およびてんかん(23%)を伴う発達遅延であることを確認する。著者らは,ID(30%)のない学習障害と乳児期(18%)の摂食困難のような新しい臨床的特徴を強調する。さらに,様々な異常形態の特徴(67%)を記述し,27名の患者の時間にわたる体重の変化を提示する。2~3-ZNFドメインに高度にクラスタ化したミスセンス変異体を持つ患者は,切断変異体と臨床的に区別できないことを示した。MYT1L関連神経発達障害の臨床的および遺伝学的データの最新の概観を提供し,これらの患者の診断および臨床管理を改善する。Copyright The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 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 ,  言語 ,  *遺伝 ,  遺伝子 ,  てんかん ,  表現型 ,  ミエリン ,  クラスタ化 ,  肥満 ,  自閉症 ,  知能障害 ,  転写因子 ,  ミスセンス突然変異
準シソーラス用語： *神経発達障害 ,  *発達障害 , 【Automatic Indexing@JST】

分類 (2件)： 遺伝的変異  (EC01030Y) ,  先天性疾患・奇形一般  (GD03010V)

タイトルに関連する用語 (6件)： 神経発達障害 ,  症例 ,  記述 ,  臨床 ,  分子 ,  文献レビュー