Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Autor: Cuccurullo C; Epilepsy Center, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University of Naples, Naples, Italy.; Neurology and Stroke Unit, Ospedale del Mare Hospital, Naples, Italy., Cerulli Irelli E; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy., Ugga L; Department of Advanced Biomedical Sciences, University Federico II, Naples, Italy., Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Medical Genetic Unit, Istituti di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Genoa, Italy., D'Amico A; Department of Radiology, 'Tortorella' private hospital, Salerno, Italy., Cabet S; Pediatric and Fetal Imaging, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon, France., Lesca G; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Bilo L; Epilepsy Center, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University of Naples, Naples, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Medical Genetic Unit, Istituti di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Genoa, Italy., Iliescu C; Department of Clinical Neurosciences, 'Carol Davila' University of Medicine and Pharmacy, Bucharest, Romania., Barca D; Department of Pediatric Neurology, Expertise Center for Rare Diseases in Pediatric Neurology, member of the EpiCARE European Reference Network, 'Prof. Dr. Alex. Obregia' Clinical Hospital, Bucharest, Romania., Fung F; Department of Pediatrics and Neurology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA., Helbig K; Department of Pediatrics and Neurology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA., Ortiz-Gonzalez X; Department of Pediatrics and Neurology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA., Schelhaas HJ; Department of Neurology, Epilepsy Center Kempenhaeghe, Heeze, the Netherlands., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van der Linden I; Department of Neurology, Epilepsy Center Kempenhaeghe, Heeze, the Netherlands., Canafoglia L; Integrated Diagnostics for Epilepsy, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Courage C; Folkhälsan Research Center, Helsinki, Finland.; Department of Biomedical and Clinical Science, University of Milan, Milan, Italy., Gommaraschi S; Department of Biomedical and Clinical Science, University of Milan, Milan, Italy., Gonzalez-Alegre P; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, Philadelphia, USA., Bardakjian T; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, Philadelphia, USA., Syrbe S; Division of Paediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Schuler E; Division of Paediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Lemke JR; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Vari S; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genoa, Italy., Roende G; Department of Pediatrics and Adolescent Medicine, University Hospital Rigshopitalet, Copenhagen, Denmark., Bak M; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Huq M; Department of Pediatrics, Wayne State University, Detroit, Michigan, USA., Powis Z; Ambry Genetics, Department of Emerging Genetic Medicine, CGC 15 Argonaut, Aliso Viejo, California, USA., Johannesen KM; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, New York, USA., Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, New York, USA., Zupanc ML; Children's Health of Orange County, Orange, California, USA., Zadeh N; Genetics Center and Division of Medical Genetics, Children's Hospital of Orange County, Orange, California, USA., Cohen J; Department of Neurology, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Naidu S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Saneto R; Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA., Thies J; Seattle Children's Research Institute, University of Washington, Seattle, Washington, USA., Licchetta L; IRCCS, Istituto Delle Scienze Neurologiche di Bologna, full member of the EpiCARE European Reference Network, Bologna, Italy., Tinuper P; IRCCS, Istituto Delle Scienze Neurologiche di Bologna, full member of the EpiCARE European Reference Network, Bologna, Italy., Bisulli F; IRCCS, Istituto Delle Scienze Neurologiche di Bologna, full member of the EpiCARE European Reference Network, Bologna, Italy., Minardi R; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Villeneuve N; Pediatric Neurology Department, Timone Children Hospital, Marseille, France., Molinari F; Biolab, PolitoBIOMedLab, Department of Electronics and Telecommunications, Politecnico di Torino, Turin, Italy., Salimi Dafsari H; Department of Pediatrics, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Max Planck Institute for Biology of Ageing, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases, University of Cologne, Cologne, Germany.; Department of Paediatric Neurology, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King's College London, London, UK., Moller B; Department of Pediatrics, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Le Roux M; Department of Pediatric Neurology and Neurosurgery, CHU, Angers, France., Houdayer C; Service de Génétique Médicale, Université d'Angers, CHU d'Angers, Inserm, CNRS, MITOVASC, SFR ICAT, Angers, France., Vecchi M; University of Padua, Padua, Italy., Mammi I; Medical Genetics Unit, Mirano Hospital, Venice, Italy., Fiorini E; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy.; Center for Research on Epilepsy in Pediatric Age, University Hospital of Verona, Verona, Italy., Proietti J; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy.; Center for Research on Epilepsy in Pediatric Age, University Hospital of Verona, Verona, Italy., Ferri S; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy., Cantalupo G; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy.; Center for Research on Epilepsy in Pediatric Age, University Hospital of Verona, Verona, Italy.; Innovation Biomedicine Section, Department of Engineering for Innovation Medicine, University of Verona, Verona, Italy., Battaglia DI; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Università Cattolica del Sacro Cuore, Rome, Italy., Gambardella ML; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Contaldo I; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Brogna C; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Neuropsychiatric Unit, ASL Avellino, Avellino, Italy., Trivisano M; Neurology, Epilepsy, and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, full member of the EpiCARE European Reference Network, Rome, Italy., De Dominicis A; Child Neurology Unit, Buzzi Children's Hospital, Milan, Italy., Bova SM; Child Neurology Unit, Buzzi Children's Hospital, Milan, Italy., Gardella E; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genoa, Italy., Coppola A; Epilepsy Center, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University of Naples, Naples, Italy.

Publikováno v: Epilepsia [Epilepsia] 2024 Sep; Vol. 65 (9), pp. 2728-2750. Date of Electronic Publication: 2024 Jul 02.

Mosaic tetrasomy 12p with triplication of 12p detected by array‐based comparative genomic hybridization of peripheral blood DNAHow to cite this article: Powis Z, Kang S‐HL, Cooper ML, Patel A, Peiffer DA, Hawkins A, Heidenreich R, Gunderson KL, Cheung SW, Erickson RP. 2007. Mosaic tetrasomy 12p with triplication of 12p detected by array‐based comparative genomic hybridization of peripheral blood DNA. Am J Med Genet Part A 143A:2910–2915.

Autor: Powis, Zöe, Kang, Sung‐Hae L., Cooper, M. Lance, Patel, Ankita, Peiffer, Daniel A., Hawkins, Anne, Heidenreich, Randall, Gunderson, Kevin L., Cheung, Sau W., Erickson, Robert P.

Publikováno v: American Journal of Medical Genetics. Part A; December 2007, Vol. 143 Issue: 24 p2910-2915, 6p

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Autor: Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Most V; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Härtelstr. 16-18, 04107 Leipzig, Germany., Rosenfelt C; Department of Pediatrics, University of Alberta, Edmonton, AB CT6G 1C9, Canada., Scott-Boyer MP; Research Center of Quebec CHU-Université Laval, Québec, QC PQ G1E6W2, Canada., van Woerden GM; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Papendorf JJ; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Studencka-Turski M; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University Health Science Center, Beijing 100191, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing 100191, China., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Golnik R; Klinik für Pädiatrie I, Universitätsklinikum Halle (Saale), 06120 Halle (Saale), Germany., Baldridge D; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., Forster C; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., de Konink C; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Teurlings SMW; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Vignard V; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands., Ades L; Department of Clinical Genetics, Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia.; Disciplines of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2145, Australia., Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Mignot C; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC Déficience Intellectuelle et Autisme, 75013 Paris, France.; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, 75013, Paris, France., Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Jongmans MCJ; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands.; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, Netherlands., Cole FS; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands., Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., Yang S; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Hannig V; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Brault JA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Zadeh N; Genetics Center and Division of Medical Genetics, Children's Hospital of Orange County, Orange, CA 92868, USA., Bennetts B; Disciplines of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2145, Australia.; Sydney Genome Diagnostics, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, NSW, 2145, Australia., Keren B; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France., Gélineau AC; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France., Powis Z; Department of Clinical Research, Ambry Genetics, Aliso Viejo, CA 92656, USA., Towne M; Department of Clinical Research, Ambry Genetics, Aliso Viejo, CA 92656, USA., Bachman K; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA., Seeley A; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA., Beck AE; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98195-6320, USA., Morrison J; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Westman R; Division of Genetics, St. Luke's Clinic, Boise, ID 83712, USA., Averill K; Department of Pediatrics, Division of Pediatric Neurology, UT Health Science Center at San Antonio, San Antonio, TX 78229, USA., Brunet T; Institute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany.; Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany., Haasters J; Klinikum der Universität München, Integriertes Sozialpädiatrisches Zentrum, 80337 Munich, Germany., Carter MT; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Wheeler PG; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Forzano F; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK., Mohammed S; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK., Trakadis Y; Division of Medical Genetics, McGill University Health Centre, Montreal, QC H4A 3J1, Canada., Accogli A; Division of Medical Genetics, McGill University Health Centre, Montreal, QC H4A 3J1, Canada., Harrison R; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, City Hospital Campus, the Gables, Gate 3, Hucknall Road, Nottingham NG5 1PB, UK., Guo Y; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Center for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Rondeau S; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France., Baujat G; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France., Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France., Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Preisel M; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Laumonnier F; UMR 1253, iBrain, Université de Tours, Inserm, 37032 Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, 37032 Tours, France., Kallinich T; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.; Deutsches Rheumaforschungszentrum, an institute of the Leibniz Association, Berlin and Berlin Institute of Health, 10117 Berlin, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Völker U; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, 17487 Greifswald, Germany., Hammer E; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, 17487 Greifswald, Germany., Droit A; Research Center of Quebec CHU-Université Laval, Québec, QC PQ G1E6W2, Canada., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA., Elgersma Y; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Hildebrand PW; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Härtelstr. 16-18, 04107 Leipzig, Germany.; Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Physics and Biophysics, Berlin, Germany.; Berlin Institute of Health, 10178 Berlin, Germany., Bolduc F; Department of Pediatrics, University of Alberta, Edmonton, AB CT6G 1C9, Canada.; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB T6G 2E1, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.

Publikováno v: Science translational medicine [Sci Transl Med] 2023 May 31; Vol. 15 (698), pp. eabo3189. Date of Electronic Publication: 2023 May 31.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Autor: Palmer EE; Centre for Clinical Genetics, Sydney Children's Hospital Network, Randwick, NSW, Australia. elizabeth.palmer@unsw.edu.au.; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Randwick, NSW, Australia. elizabeth.palmer@unsw.edu.au., Pusch M; Istituto di Biofisica, CNR, Genova, Italy. michael.pusch@ibf.cnr.it., Picollo A; Istituto di Biofisica, CNR, Genova, Italy., Forwood C; Centre for Clinical Genetics, Sydney Children's Hospital Network, Randwick, NSW, Australia., Nguyen MH; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Randwick, NSW, Australia.; Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia., Suckow V; Max Planck Institute for Molecular Genetics, Group Development and Disease, Berlin, Germany., Gibbons J; Max Planck Institute for Molecular Genetics, Group Development and Disease, Berlin, Germany., Hoff A; Istituto di Biofisica, CNR, Genova, Italy.; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, 581 83, Sweden., Sigfrid L; Istituto di Biofisica, CNR, Genova, Italy.; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, 581 83, Sweden., Megarbane A; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.; Institut Jerome Lejeune, Paris, France., Nizon M; Service de Génétique Médicale, CHU de Nantes, Nantes Université, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Cogné B; Service de Génétique Médicale, CHU de Nantes, Nantes Université, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Beneteau C; Service de Génétique Médicale, CHU de Nantes, Nantes Université, Nantes, France., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Chedrawi A; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Stamberger H; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Neurology Department, Antwerp University Hospital, Antwerp, Belgium., Weckhuysen S; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Neurology Department, Antwerp University Hospital, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium., Vanlander A; Department of Child Neurology & Metabolism, Ghent University Hospital, Ghent, Belgium., Ceulemans B; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium., Rajagopalan S; Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia., Nunn K; Children's Hospital at Westmead, Sydney Children's Hospitals Network, Sydney, Australia., Arpin S; Service de Génétique Clinique, Centre Hospitalier Régional Universitaire de Tours, Tours, France., Raynaud M; Service de Génétique Clinique, Centre Hospitalier Régional Universitaire de Tours, Tours, France., Motter CS; Genetic Center, Akron Children's Hospital, Akron, OH, USA., Ward-Melver C; Genetic Center, Akron Children's Hospital, Akron, OH, USA., Janssens K; Center of Medical Genetics, University Hospital Antwerp/University of Antwerp, Edegem, Belgium., Meuwissen M; Center of Medical Genetics, University Hospital Antwerp/University of Antwerp, Edegem, Belgium., Beysen D; Department of Pediatric Neurology, University Hospital Antwerp/University of Antwerp, Edegem, Belgium., Dikow N; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Clement E; Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK., McTague A; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK., Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Townshend S; Genetic Services of WA, King Edward Memorial Hospital, Subiaco, WA, Australia., Ward M; Genetic Services of WA, King Edward Memorial Hospital, Subiaco, WA, Australia., Richards LJ; Department of Neuroscience, Washington University in St Louis School of Medicine, St Louis, MI, USA.; The University of Queensland, Queensland Brain Institute, St Lucia, QLD, Australia., Simons C; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Garvan Institute of Medical Research, UNSW, Sydney, NSW, Australia., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada., Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada., Dudding-Byth T; Genetics of Learning Disability Service, Newcastle, NSW, Australia.; University of Newcastle Grow Up Well Priority Research Centre, Newcastle, NSW, Australia., Boyle J; Genetics of Learning Disability Service, Newcastle, NSW, Australia., Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital and Clinics, MI, Kansas City, USA.; Kansas City School of Medicine, University of Missouri, Kansas City, MI, USA., Fleming E; Division of Clinical Genetics, Children's Mercy Hospital and Clinics, Kansas City, MI, USA., El Chehadeh S; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Laboratoire de Génétique Médicale, UMRS_1112, Institut de Génétique Médicale d'Alsace (IGMA), Université de Strasbourg et INSERM, Strasbourg, France., Spitz MA; 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Publikováno v: Molecular psychiatry [Mol Psychiatry] 2023 Feb; Vol. 28 (2), pp. 668-697. Date of Electronic Publication: 2022 Nov 16.

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Autor: Zweier, M., Begemann, A., Mcwalter, K., Cho, M. T., Abela, L., Banka, S., Behring, B., Berger, A., Brown, C. W., Carneiro, M., Chen, J., Cooper, G. M., Finnila, C. R., Sacoto, M. J. Guillen, Henderson, A., Hueffmeier, U., Joset, P., Kerr, B., Lesca, G., Leszinski, G. S., Mcdermott, J. H., Meltzer, M. R., Monaghan, K. G., Mostafavi, R., Ounap, K., Plecko, B., Powis, Z., Purcarin, G., Reimand, T., Riedhammer, K. M., Schreiber, J. M., Sirsi, D., Wierenga, K. J., Wojcik, M. H., Papuc, S. M., Steindl, K., Sticht, H., Anita Rauch

Publikováno v: Deciphering Developmental Disorders (DDD) Study 2019, ' Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures ', European journal of human genetics : EJHG . https://doi.org/10.1038/s41431-018-0331-z
Web of Science
Eur J Hum Genet

CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual disability and autism because of its important role linking FMRP-dependent transcription regu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d0326f688aa9da100d1da43c2778301
https://www.research.manchester.ac.uk/portal/en/publications/spatially-clustering-de-novo-variants-in-cyfip2-encoding-the-cytoplasmic-fmrp-interacting-protein-2-cause-intellectual-disability-and-seizures(25ed1309-95f9-4ade-81dd-3ae801258bcc).html