دورية أكاديمية
أعرض في EDS

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

التفاصيل البيبلوغرافية
العنوان: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
المؤلفون: Piard J; Centre de Génétique Humaine, Université de Franche-Comté, CHU Besançon, Besançon, France., Hawkes L; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Milh M; Aix Marseille Univ, Inserm, MMG, Marseille, France.; Pediatric Neurology, La Timone Children's Hospital, AP-HM, Marseille, France., Villard L; Aix Marseille Univ, Inserm, MMG, Marseille, France.; Medical Genetics, La Timone Children's Hospital, AP-HM, Marseille, France., Borgatti R; Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy., Romaniello R; Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy., Fradin M; Service de Génétique, CLAD Ouest, CHU Rennes, Rennes, France., Capri Y; Département de Génétique, Hôpital Robert Debré, APHP Paris, Paris, France., Héron D; APHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau, Sorbonne Université, GRC 'Déficience Intellectuelle et Autisme', Paris, France., Nougues MC; Neuropédiatrie et Unité d'électrophysiologie clinique, Centre de Référence des Maladies Neuromusculaires de l'EST parisien et DHU I2B, Hôpital d'Enfants Armand Trousseau, Paris, France., Nava C; Département de Génétique, Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, APHP, Hôpital de la Pitié Salpêtrière, Paris, France., Arsene OT; Pediatric Neurology Clinic, 'Alexandru Obregia' Clinical Psychiatry Hospital, 'Carol Davila' University of Medicine, Bucharest, Romania., Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Taylor J; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Oxford, UK., Pagnamenta A; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Taylor JC; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Sogawa Y; Division of Pediatric Neurology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA., Johnson D; Department of Clinical Genetics, Sheffield Children's NHS Trust, Sheffield, United Kingdom., Firth H; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Vasudevan P; Clinical Genetics Department, University Hospitals Leicester NHS Trust, Leicester, UK., Jones G; Clinical Genetics Department, University Hospitals Leicester NHS Trust, Leicester, UK., Nguyen-Morel MA; Service de Neurologie pédiatrique, Hopital Couple Enfant, CHU Grenoble Alpes, Grenoble, France., Busa T; Medical Genetics, La Timone Children's Hospital, AP-HM, Marseille, France., Roubertie A; Département de Neuropédiatrie, Centre Hospitalier Universitaire de Montpellier, INSERM U 1051, Institut des Neurosciences de Montpellier, Montpellier, France., van den Born M; Department for Clinical Genetics, Erasmus MC, Rotterdam, Netherlands., Brischoux-Boucher E; Centre de Génétique Humaine, Université de Franche-Comté, CHU Besançon, Besançon, France., Koenig M; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, Montpellier, France., Mignot C; APHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau, Sorbonne Université, GRC 'Déficience Intellectuelle et Autisme', Paris, France., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. usha.kini@ouh.nhs.uk., Philippe C; Laboratoire de génétique, Innovations en diagnostic génomique des maladies rares, Plateau Technique de Biologie, CHU Dijon, Dijon, France.; INSERM 1231, LNC UMR1231 GAD, Burgundy University, Dijon, France.
مؤلفون مشاركون: DDD Study
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jun; Vol. 21 (6), pp. 1308-1318. Date of Electronic Publication: 2018 Oct 25.
نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
أسماء مطبوعة: Publication: 2022- : [New York] : Elsevier
Original Publication: Baltimore, MD : Lippincott, Williams & Wilkins, c1998-
مواضيع طبية MeSH: Epileptic Syndromes/*genetics , Tumor Suppressor Proteins/*genetics , Tumor Suppressor Proteins/*physiology , WW Domain-Containing Oxidoreductase/*genetics , WW Domain-Containing Oxidoreductase/*physiology, Adolescent ; Child ; Child, Preschool ; DNA Copy Number Variations/genetics ; Epilepsy/genetics ; Female ; Genetic Association Studies/methods ; Humans ; Infant ; Male ; Mutation/genetics ; Mutation, Missense/genetics ; Syndrome ; Tumor Suppressor Proteins/metabolism ; WW Domain-Containing Oxidoreductase/metabolism
مستخلص: Purpose: Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic encephalopathy (WOREE syndrome). We review clinical and molecular data on WWOX-related disorders, further describing WOREE syndrome and phenotype/genotype correlations.
Methods: We report clinical and molecular findings in 20 additional patients from 18 unrelated families with WOREE syndrome and biallelic pathogenic variants in the WWOX gene. Different molecular screening approaches were used (quantitative polymerase chain reaction/multiplex ligation-dependent probe amplification [qPCR/MLPA], array comparative genomic hybridization [array-CGH], Sanger sequencing, epilepsy gene panel, exome sequencing), genome sequencing.
Results: Two copy-number variations (CNVs) or two single-nucleotide variations (SNVs) were found respectively in four and nine families, with compound heterozygosity for one SNV and one CNV in five families. Eight novel missense pathogenic variants have been described. By aggregating our patients with all cases reported in the literature, 37 patients from 27 families with WOREE syndrome are known. This review suggests WOREE syndrome is a very severe epileptic encephalopathy characterized by absence of language development and acquisition of walking, early-onset drug-resistant seizures, ophthalmological involvement, and a high likelihood of premature death. The most severe clinical presentation seems to be associated with null genotypes.
Conclusion: Germline pathogenic variants in WWOX are clearly associated with a severe early-onset epileptic encephalopathy. We report here the largest cohort of individuals with WOREE syndrome.
التعليقات: Erratum in: Genet Med. 2019 Feb 20;:. (PMID: 30783266)
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معلومات مُعتمدة: United Kingdom DH_ Department of Health; United Kingdom Wellcome Trust; WT098051 United Kingdom WT_ Wellcome Trust; 090532/Z/09/Z United Kingdom WT_ Wellcome Trust
فهرسة مساهمة: Keywords: WWOX; encephalopathy; epilepsy
المشرفين على المادة: 0 (Tumor Suppressor Proteins)
EC 1.1.1.- (WW Domain-Containing Oxidoreductase)
EC 1.1.1.- (WWOX protein, human)
تواريخ الأحداث: Date Created: 20181026 Date Completed: 20200213 Latest Revision: 20220210
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC6752669
DOI: 10.1038/s41436-018-0339-3
PMID: 30356099
قاعدة البيانات: MEDLINE
الوصف
تدمد:1530-0366
DOI:10.1038/s41436-018-0339-3