SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.

Autor: Nashabat M; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey., Nabavizadeh N; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey., Saraçoğlu HP; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey., Sarıbaş B; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey., Avcı Ş; Diagnostic Center for Genetic Diseases, Department of Medical Genetics, Koç University Hospital, Istanbul, Turkey., Börklü E; Diagnostic Center for Genetic Diseases, Department of Medical Genetics, Koç University Hospital, Istanbul, Turkey., Beillard E; Department of Biopathology, Centre Léon Bérard, Lyon, France., Yılmaz E; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey., Uygur SE; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey., Kayhan CK; Pathology Laboratory, Acıbadem Maslak Hospital, Istanbul, Turkey.; Department of Biotechnology, Nişantaşı University, Istanbul, Turkey., Bosco L; Unit of Muscular and Neurodegenerative Disorders and Developmental Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Department of Science, University 'Roma Tre', Rome, Italy., Eren ZB; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey., Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Richter MF; Department of Neonatology, Children's and Youth Hospital Auf der Bult, Hannover, Germany., Bademci G; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Research Priority Program (URPP) ITINERARE: Innovative Therapies in Rare Diseases, University of Zurich, Zurich, Switzerland.; Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich, Switzerland., Fattahi Z; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Kariminejad-Najmabadi Pathology & Genetics Centre, Tehran, Iran., Valentino ML; IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Connolly AM; Division of Neurology, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH, USA., Bahr A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Viola L; Unit of Clinical Pediatrics, State Hospital, San Marino Republic, Italy., Bergmann AK; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Rocha ME; CENTOGENE GmbH, Rostock, Germany., Peart L; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Castro-Rojas DL; Genomics Laboratory, Center of Immunology and Genetics (CIGE), SURA Ayudas Diagnosticas, Medellín, Colombia., Bültmann E; Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Hannover, Germany., Khan S; CENTOGENE GmbH, Rostock, Germany., Giarrana ML; Division of Sleep Medicine, University Children's Hospital Zurich, Zurich, Switzerland., Teleanu RI; Dr Victor Gomoiu Children's Hospital, Bucharest, Romania.; Carol Davila University of Medicine and Pharmacy, Bucharest, Romania., Gonzalez JM; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Pini A; Neuromuscular Pediatric Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy., Schädlich IS; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg-Eppendorf, Germany., Vill K; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany.; Department of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany., Brugger M; Department of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; John P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Pinto A; CENTOGENE GmbH, Rostock, Germany., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Bivona SA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Riza A; Human Genomics Laboratory, University of Medicine and Pharmacy, Craiova, Romania.; Regional Centre of Medical Genetics Dolj, County Clinical Emergency Hospital, Craiova, Romania., Streata I; Human Genomics Laboratory, University of Medicine and Pharmacy, Craiova, Romania.; Regional Centre of Medical Genetics Dolj, County Clinical Emergency Hospital, Craiova, Romania., Gläser D; Genetikum, Neu-Ulm, Germany., Baquero-Montoya C; Pediatric department, Hospital Pablo Tobon Uribe, SURA Ayudas Diagnosticas, Medellín, Colombia., Garcia-Restrepo N; Universidad de Manizales, Manizales, Caldas, Colombia., Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Brunet T; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany.; Department of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany., Epure DA; Dr Victor Gomoiu Children's Hospital, Bucharest, Romania., Bertoli-Avella A; CENTOGENE GmbH, Rostock, Germany., Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Centre, Tehran, Iran., Tekin M; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; John P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., von Hardenberg S; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Stettner GM; Neuromuscular Center Zurich and Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Zanni G; Unit of Muscular and Neurodegenerative Disorders and Developmental Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Kayserili H; Diagnostic Center for Genetic Diseases, Department of Medical Genetics, Koç University Hospital, Istanbul, Turkey.; Department of Medical Genetics, Koç University School of Medicine (KUSoM), Istanbul, Turkey., Oflazer ZP; Department of Neurology, Koç University Hospital Muscle Center, Istanbul, Turkey., Escande-Beillard N; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey. nbeillard@ku.edu.tr.; Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine (KUSoM), Istanbul, Turkey. nbeillard@ku.edu.tr.

Publikováno v: Nature communications [Nat Commun] 2024 Feb 27; Vol. 15 (1), pp. 1758. Date of Electronic Publication: 2024 Feb 27.