Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.,Genetics in Medicine

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Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Genetics in Medicine ( IF 8.8 ) Pub Date : 2018-09-01 , DOI: 10.1038/gim.2017.221
Ivan Ivanovski _{1,

2} , Olivera Djuric _{1,

3} , Stefano Giuseppe Caraffi ₁ , Daniela Santodirocco ₁ , Marzia Pollazzon ₁ , Simonetta Rosato ₁ , Duccio Maria Cordelli ₄ , Ebtesam Abdalla ₅ , Patrizia Accorsi ₆ , Margaret P Adam ₇ , Paola Francesca Ajmone ₈ , Magdalena Badura-Stronka ₉ , Chiara Baldo ₁₀ , Maddalena Baldi ₁ , Allan Bayat _{11,

12} , Stefania Bigoni ₁₃ , Federico Bonvicini _{1,

14} , Jeroen Breckpot ₁₅ , Bert Callewaert ₁₆ , Guido Cocchi ₁₇ , Goran Cuturilo _{18,

19} , Daniele De Brasi ₂₀ , Koenraad Devriendt ₁₅ , Mary Beth Dinulos ₂₁ , Tina Duelund Hjortshøj ₂₂ , Roberta Epifanio ₂₃ , Francesca Faravelli ₂₄ , Agata Fiumara ₂₅ , Debora Formisano ₂₆ , Lucio Giordano ₆ , Marina Grasso ₁₀ , Sabine Grønborg ₂₇ , Alessandro Iodice ₂₈ , Lorenzo Iughetti ₁₄ , Vladimir Kuburovic ₂₉ , Anna Kutkowska-Kazmierczak ₃₀ , Didier Lacombe _{31,

32} , Caterina Lo Rizzo ₃₃ , Anna Luchetti ₃₄ , Baris Malbora ₃₅ , Isabella Mammi ₃₆ , Francesca Mari ₃₃ , Giulia Montorsi _{1,

37} , Sebastien Moutton _{31,

32} , Rikke S Møller _{38,

39} , Petra Muschke ₄₀ , Jens Erik Klint Nielsen ₄₁ , Ewa Obersztyn ₃₀ , Chiara Pantaleoni ₄₂ , Alessandro Pellicciari ₄ , Maria Antonietta Pisanti ₄₃ , Igor Prpic ₄₄ , Maria Luisa Poch-Olive ₄₅ , Federico Raviglione ₄₆ , Alessandra Renieri ₃₃ , Emilia Ricci ₄ , Francesca Rivieri ₄₇ , Gijs W Santen ₄₈ , Salvatore Savasta ₄₉ , Gioacchino Scarano ₅₀ , Ina Schanze ₄₀ , Angelo Selicorni _{51,

52} , Margherita Silengo ₅₃ , Robert Smigiel ₅₄ , Luigina Spaccini ₅₅ , Giovanni Sorge ₅₆ , Krzysztof Szczaluba ₅₇ , Luigi Tarani ₅₈ , Luis Gonzaga Tone ₅₉ , Annick Toutain ₆₀ , Aurelien Trimouille _{31,

32} , Elvis Terci Valera ₅₉ , Samantha Schrier Vergano _{61,

62} , Nicoletta Zanotta ₂₄ , Martin Zenker ₄₀ , Andrea Conidi ₆₃ , Marcella Zollino ₆₄ , Anita Rauch ₆₅ , Christiane Zweier ₆₆ , Livia Garavelli ₁

Affiliation

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
Department of Surgical, Medical, Dental, and Morphological Sciences with Interest in Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.
Institute of Epidemiology, School of Medicine, University of Belgrade, Belgrade, Serbia.
Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy.
Department of Human Genetics, Medical Research Institute, University of Alexandria, Alexandria, Egypt.
Neuropsychiatric Department, Spedali Civili Brescia, Brescia, Italy.
Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA.
Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.
Laboratory of Human Genetics; Galliera Hospital, Genoa, Italy.
Department of Pediatrics, University Hospital of Copenhagen/Hvidovre, Copenhagen, Denmark.
Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark.
UOL of Medical Genetics, University Hospital of Ferrara, Ferrara, Italy.
Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.
Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Neonatology Unit, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Department of Medical Genetics, University Children's Hospital, Belgrade, Serbia.
Department of Pediatrics, AORN Santobono Pausilipon, Naples, Italy.
Department of Pediatrics, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire, USA.
Department of Clinical Genetics, Kennedy Center, Glostrup, Denmark.
Clinical Neurophysiology Unit, IRCCS, E Medea Scientific Institute, Bosisio Parini, Lecco, Italy.
Clinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Department of Clinical and Experimental Medicine, Regional Referral Center for Inborn Errors Metabolism, Pediatric Clinic, University of Catania, Catania, Italy.
Scientific Directorate, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
Center for Rare Diseases, Department of Clinical Genetics, University Hospital Copenhagen, Copenhagen, Denmark.
Neuropsychiatric Department, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
Department of Cardiology, Mother and Child Health Care Institute, Belgrade, Serbia.
Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland.
CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
INSERM U1211, Univ. Bordeaux, Bordeaux, France.
Medical Genetics, University of Siena, Siena, Italy.
Child Neuropsychiatry Unit, Faculty of Medicine and Psychology, Sapienza University, Rome, Italy.
Department of Pediatric Hematology & Oncology, Tepecik Training and Research Hospital, Izmir, Turkey.
Medical Genetics Unit, Dolo Hospital, Venice, Italy.
Faculty of Medicine, University of Modena and Reggio Emilia, Modena, Italy.
Danish Epilepsy Centre, Dianalund, Denmark.
Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Department of Pediatrics, Zealand University Hospital Roskilde, Roskilde, Denmark.
Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico "C. Besta,", Milan, Italy.
Medical Genetic Unit, AORN Cardarelli, Naples, Italy.
Department of Pediatrics-Child Neurology Service, University Hospital Rijeka, Medical Faculty, University of Rijeka, Rijeka, Croatia.
Department of Pediatrics, H. San Pedro, La Rioja, Logrono, Spain.
Child Neuropsychiatry Unit, U.O.N.P.I.A ASST-Rhodense, Rho, Milan, Italy.
Genetics Unit, St. Chiara Hospital, Trento, Italy.
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Department of Pediatrics, IRCCS San Matteo, Pavia, Italy.
Department of Medical Genetics, Gaetano Rummo Hospital, Benevento, Italy.
Department of Pediatrics, Hospital S. Gerardo, University of Milano-Bicocca, Monza, Italy.
Department of Pediatrics, ASST Lariana, Como, Italy.
Department of Pediatrics, University of Torino, Torino, Italy.
Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.
Clinical Genetics Unit, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, Universita' degli Studi di Milano, Milan, Italy.
Department of Pediatrics and Medical Sciences, "Vittorio Emanuele" Hospital, University of Catania, Catania, Italy.
Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
Department of Pediatrics, University "La Sapienza,", Rome, Italy.
Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
Department of Genetics, Tours University Hospital, Tours, France.
Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.
Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
Department of Cell Biology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Institute of Genomic Medicine, Catholic University, Gemelli Hospital Foundation, Rome, Italy.
Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS.

中文翻译：

87 例 Mowat-Wilson 综合征患者的表型和基因型及护理建议。

Mowat-Wilson 综合征 (MWS) 是一种由 ZEB2 基因杂合突变引起的罕见智力障碍/多发性先天性异常综合征。它通常被低估，因为它的稀有性和表型变异性有时使其难以识别。在这里，我们旨在更好地描述 MWS 的表型、自然史和基因型-表型相关性。

更新日期：2018-01-05

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