Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.

Autor: Galosi S; Department of Human Neuroscience, Sapienza University, Rome, Italy., Mancini C; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Commone A; Department of Human Neuroscience, Sapienza University, Rome, Italy., Calligari P; Department of Chemical Science and Technologies, University of Rome Tor Vergata, Rome, Italy., Caputo V; Department of Experimental Medicine, Sapienza University, Rome, Italy., Nardecchia F; Department of Human Neuroscience, Sapienza University, Rome, Italy., Carducci C; Department of Experimental Medicine, Sapienza University, Rome, Italy., van den Heuvel LP; Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., Pizzi S; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy., Niceta M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Martinelli S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy., Rodenburg RJ; Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Leuzzi V; Department of Human Neuroscience, Sapienza University, Rome, Italy.

Publikováno v: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Jul; Vol. 39 (7), pp. 1225-1231. Date of Electronic Publication: 2024 Apr 30.

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

Autor: van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Moutton S; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France., Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Weis D; Institute of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University, Linz, Austria., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Arberas C; Sección Genética Médica, Hospital de Niños Dr. Ricardo Gutiérrez, Buenos Aires, Argentina., Baldassarri M; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics, University of Siena, Siena, Italy., Beneteau C; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Centre Hospitalier Universitaire de Nantes, UF de Foetopathologie et Génétique, Nantes, France; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France., Brusco A; Department of Medical Sciences, University of Torino, Torino, Italy., Coutton C; Service de Génétique, Génomique, et Procréation, Centre Hospitalier Universitaire Grenoble Alpes, La Tronche, France; Inserm, CNRS UMR 5309, Institut pour l'Avancée des Biosciences (IAB), Université Grenoble Alpes, Grenoble, France., Dabir T; Department of Genetic Medicine, Belfast City Hospital, Belfast, Northern Ireland, United Kingdom., Dentici ML; Medical Genetics, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Devriendt K; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France; Genetics of Developmental Disorders, Inserm - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Dijon, France., van Haelst MM; Section Clinical Genetics, Department of Human Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands; Amsterdam Reproduction and Development, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Jizi K; Department of Pediatrics, Université de Montréal, Montreal, QC, Canada; Centre de Recherche et Centre Hospitalier Universitaire Sainte-Justine, Montreal, QC, Canada., Kempers MJ; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Kharbanda M; Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, United Kingdom., Lachlan K; Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, United Kingdom; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom., Marle N; Laboratoire de Génétique Chromosomique et Moléculaire, Pôle de Biologie, CHU de Dijon, Dijon, France., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Mowat D; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; University of New South Wales, School of Women's and Children's Health, Faculty of Medicine and Health, Kensington, New South Wales, Australia., Niceta M; Molecular Genetics and Functional Genomics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Nicolas C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France; Genetics of Developmental Disorders, Inserm - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Dijon, France., Novelli A; Translational Cytogenomics, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Orlando V; Translational Cytogenomics, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Pichon O; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Ropers FG; Willem-Alexander Children's Hospital, Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX., Sachdev R; University of New South Wales, School of Women's and Children's Health, Faculty of Medicine and Health, Kensington, New South Wales, Australia; School of Women's and Children's Health, UNSW Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia., Sandaradura SA; Sydney Children's Hospitals Network, Westmead, New South Wales, Australia; Children's Hospital Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia., Shukarova-Angelovska E; Department of Endocrinology and Genetics, University Clinic for Children's Diseases, Medical Faculty, University Sv. Kiril I Metodij, Skopje, Republic of North Macedonia., Steenbeek D; Department of Rehabilitation Medicine, Maastricht University Medical Center/Adelante, Rehabilitation, Maastricht, The Netherlands., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Tedder MA; Greenwood Genetic Center, Greenwood, SC., Trajkova S; Department of Medical Sciences, University of Torino, Torino, Italy; Molecular Biotechnology Center 'Guido Tarone, ' University of Turin, Turin, Italy., Winer N; Service de Gynécologie-Obstétrique, Centre Hospitalier Universitaire de Nantes, Nantes, France; Nun, INRAE, Physiol, UMR1280 AN, Université de Nantes, Nantes, France., Woods J; Department of Genetics, Valley Children's Hospital, Madera, CA; Stanford University, Palo Alto, CA., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Alders M; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: santen@lumc.nl.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 28; Vol. 27 (1), pp. 101283. Date of Electronic Publication: 2024 Sep 28.

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.

Autor: Gazzin A; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Turin, Turin, Italy.; Department of Public Health and Pediatrics, University of Turin, Turin, Italy.; Clinical Pediatric Genetics Unit, Regina Margherita Children's Hospital, Turin, Italy., Fornari F; Postgraduate School of Pediatrics, University of Turin, Turin, Italy., Niceta M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital IRCCS, 00146, Rome, Italy., Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Dentici ML; Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Carli D; Department of Medical Sciences, University of Turin, Turin, Italy., Villar AM; Cardiology Department, Regina Margherita Children's Hospital, Turin, Italy., Calcagni G; Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Banaudi E; Cardiology Department, Regina Margherita Children's Hospital, Turin, Italy., Massuras S; Department of Public Health and Pediatrics, University of Turin, Turin, Italy., Cardaropoli S; Department of Public Health and Pediatrics, University of Turin, Turin, Italy., Airulo E; Department of Public Health and Pediatrics, University of Turin, Turin, Italy., Daniele P; Medical Genetics Unit, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Monda E; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples, Italy., Limongelli G; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples, Italy., Riggi C; Cardiology Department, Regina Margherita Children's Hospital, Turin, Italy., Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Digilio MC; Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., De Luca A; Medical Genetics Unit, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital IRCCS, 00146, Rome, Italy., Ferrero GB; Department of Clinical and Biological Sciences, University of Turin, Orbassano, Italy. giovannibattista.ferrero@unito.it., Mussa A; Department of Public Health and Pediatrics, University of Turin, Turin, Italy. alessandro.mussa@unito.it.; Clinical Pediatric Genetics Unit, Regina Margherita Children's Hospital, Turin, Italy. alessandro.mussa@unito.it.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug; Vol. 32 (8), pp. 964-971. Date of Electronic Publication: 2024 Jun 01.

BCL11B-Related Dystonia: Further Evidence of an Emerging Cause of Childhood-Onset Generalized Dystonia.

Autor: Garone G; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy., Capuano A; Child and Adolescent Neuropsychiatric Unit, Azienda Sanitaria Locale Viterbo, Viterbo, Italy., Amodio D; Academic Department of Pediatrics (DPUO), Research Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Nicita F; Genetics and Rare Diseases Research Division, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Travaglini L; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Graziola F; Department of Paediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., De Benedictis A; Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Frascarelli F; Neurorehabilitation Unit, Bambino Gesù Children's Hospital, Rome, Italy., Parisi P; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy., Pizzi S; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Marras CE; Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Niceta M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Publikováno v: Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Jul; Vol. 11 (7), pp. 897-901. Date of Electronic Publication: 2024 May 27.

Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.

Autor: Sinibaldi L; Medical Genetics Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Garone G; Clinical and Experimental Neurology, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy., Mandarino A; Child and Adolescent Neuropsychiatry Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Iarossi G; Department of Ophthalmology, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Chioma L; Endocrinology and Diabetology Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Dentici ML; Medical Genetics Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Merla G; Laboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Department of Molecular Medicine & Medical Biotechnology, University of Naples Federico II, Naples, Italy., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Micalizzi A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Mancini C; Molecular Genetics and Functional Genomics, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Niceta M; Molecular Genetics and Functional Genomics, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Macchiaiolo M; Rare Diseases and Medical Genetics Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Diodato D; Neuromuscular and Neurodegenerative Disorders Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Onesimo R; Rare Diseases Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Blandino R; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Delogu AB; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., De Rosa G; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Trevisan V; Rare Diseases Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Iademarco M; Rare Diseases Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Zampino G; Rare Diseases Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Università Cattolica Sacro Cuore, Rome, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Bartuli A; Rare Diseases and Medical Genetics Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Digilio MC; Medical Genetics Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Calcagni G; Department of Cardiac Surgery, Cardiology and Heart and Lung Transplant, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.

Publikováno v: Clinical genetics [Clin Genet] 2023 Nov; Vol. 104 (5), pp. 528-541. Date of Electronic Publication: 2023 Jul 17.