ArticlemedRxiv : the preprint server for health sciences2024
The recurrent deep intronic pseudoexon-inducing variant
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Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
69 authors at 20 institutions in 16 countries.
A Reghan FoleyNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.ORCID 0000-0003-2168-1119
Véronique BolducNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.ORCID 0000-0003-1690-9270
Fady GuirguisNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.ORCID 0009-0004-1784-096X
Sandra DonkervoortNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.ORCID 0000-0001-6399-1444
Ying HuNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Rotem OrbachNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.ORCID 0000-0002-1015-1529
Riley M McCartyNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Apurva SarathyNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.ORCID 0009-0009-3538-1804
Gina NoratoClinical Trials Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.ORCID 0000-0003-1324-0217
Beryl B CummingsBroad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0001-6346-1646
Monkol LekBroad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0003-1227-6293
Anna SarkozyDubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK.ORCID 0000-0002-1353-0583
Russell J ButterfieldDepartments of Neurology and Pediatrics, University of Utah, Salt Lake City, UT 84132, USA.ORCID 0000-0002-8452-7189
Janbernd KirschnerDepartment of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg 79110, Germany.ORCID 0000-0003-1618-7386
Andrés NascimentoNeuromuscular Unit, Neuropediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu. CIBERER ISCIII. Barcelona 08950, Spain.
Daniel Natera-de BenitoNeuromuscular Unit, Neuropediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu. CIBERER ISCIII. Barcelona 08950, Spain.ORCID 0000-0001-7764-2085
Susana Quijano-RoyGarches Neuromuscular Reference Center, Child Neurology and ICU Department, APHP Raymond Poincare University Hospital (UVSQ Paris Saclay), Garches 92380, France.ORCID 0000-0002-8503-6111
Tanya StojkovicCentre de Référence des Maladies Neuromusculaires Nord/Est/Île-de-France, Institut de Myologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris 75013, France.ORCID 0000-0002-4054-2838
Luciano MerliniDepartment of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40126, Italy.ORCID 0000-0002-1108-1198
Giacomo ComiNeurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.ORCID 0000-0002-1383-5248
Monique RyanDepartment of Neurology, The Royal Children's Hospital, Parkville, VIC 3052, Australia.
Denise McDonaldDepartment of Neurodisability, Children's Health Ireland at Tallaght, Dublin 24 Ireland.
Pinki MunotDubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK.ORCID 0000-0001-9900-798X
Grace YoonDepartment of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada.
Edward LeungDepartment of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB R3A 1S1, Canada.ORCID 0000-0003-3154-2403
Erika FinangerDepartment of Pediatrics and Neurology, Oregon Health & Science University, Portland, OR 97239, USA.ORCID 0000-0002-9420-5458
Meganne E LeachNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.ORCID 0009-0007-5599-3512
James CollinsDivisions of Neurology and Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Cuixia TianDivisions of Neurology and Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Payam MohasselNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.ORCID 0000-0001-5313-9514
Sarah B NeuhausNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.ORCID 0000-0002-7739-1308
Dimah SaadeNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.ORCID 0000-0003-1938-9952
Benjamin T CocanougherDivision of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27710, USA.ORCID 0000-0003-0648-554X
Mary-Lynn ChuDepartment of Neurology, New York University School of Medicine, New York, NY 10016, USA.ORCID 0000-0002-2708-406X
Mena ScavinaDivision of Neurology, Nemours Children's Hospital Delaware, Wilmington, DE 19803, USA.ORCID 0000-0002-1371-9765
Carla GrosmannDepartment of Neurology, Rady Children's Hospital University of California San Diego, San Diego, CA 92123, USA.ORCID 0000-0002-4752-0797
Randal RichardsonDepartment of Neurology, Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA.
Brian D KossakDepartment of Neurology, Dartmouth Hitchcock Medical Center, Lebanon, NH 03766, USA.
Sidney M GospeDepartment of Neurology and Pediatrics, University of Washington, Seattle, WA 98105, USA.ORCID 0000-0002-0099-109X
Vikram BhiseDepartments of Pediatrics and Neurology, Rutgers Robert Wood Johnson Medical School, Rutgers University, New Brunswick, NJ 08901, USA.ORCID 0000-0003-3304-5523
Gita TaurinaChildren's Clinical University Hospital, Medical Genetics and Prenatal Diagnostic Clinic, Riga 1004, Latvia.ORCID 0000-0002-7101-6929
Baiba LaceRiga East Clinical University, Institute of Clinical and Preventive Medicine of the University of Latvia, Riga 1586, Latvia.ORCID 0000-0001-5371-6756
Monica TroncosoPediatric Neuropsychiatry Service, Hospital Clínico San Borja Arriarán, Pediatric Department, Universidad de Chile, Santiago 1234, Chile.ORCID 0000-0002-2539-4929
Mordechai ShohatThe Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan 52621, Israel.
Adel ShalataThe Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 32000, Israel.ORCID 0000-0001-5209-2072
Sophelia H S ChanDepartment of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.ORCID 0000-0002-2990-0163
Manu JokelaClinical Neurosciences, University of Turku, Turku, Finland and Neurocenter, Turku University Hospital, Turku 20520, Finland.ORCID 0000-0002-7568-4684
Johanna PalmioNeuromuscular Research Center, Tampere University and Tampere University Hospital, Tampere 33101, Finland.ORCID 0000-0001-9704-0145
Göknur HaliloğluDivision of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara 06230, Turkey.ORCID 0000-0003-1813-275X
Cristina JouPathology department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona 08950, Spain.ORCID 0000-0002-2223-7880
Corine GartiouxINSERM, Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, Paris 75013, France.ORCID 0000-0003-4783-2835
Herimela Solomon-DegefaCenter for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany.ORCID 0000-0003-1094-9802
Carolin D FreiburgCenter for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany.
Alvise SchiavinatoCenter for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany.ORCID 0000-0002-8969-4074
Haiyan ZhouNational Institute of Health Research, Great Ormond Street Hospital Biomedical Research Centre, Genetics and Genomic Medicine Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.ORCID 0000-0001-8440-3074
Sara AgutiNeurodegenerative Disease Department, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.ORCID 0000-0001-5105-121X
Yoram NevoInstitute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.ORCID 0000-0002-1434-0976
Ichizo NishinoDepartment of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan.ORCID 0000-0001-9452-112X
Cecilia Jimenez-MallebreraLaboratorio de Investigación Aplicada en Enfermedades Neuromusculares, Unidad de Patología Neuromuscular, Servicio de Neuropediatría, Institut de Recerca Sant Joan de Déu, Barcelona 08950, Spain.ORCID 0000-0001-8203-7103
Shireen R LamandéDepartment of Paediatrics, University of Melbourne, The Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.ORCID 0000-0003-2938-2711
Valérie AllamandINSERM, Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, Paris 75013, France.ORCID 0000-0001-8997-9742
Francesca GualandiUnit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, Ferrara 44121, Italy.
Alessandra FerliniUnit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, Ferrara 44121, Italy.ORCID 0000-0001-8385-9870
Daniel G MacArthurBroad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-5771-2290
Steve D WiltonCentre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University; Centre for Neuromuscular and Neurological Disorders, Perron Institute for Neurological and Translational Science, The University of Western Australia, Nedlands, WA 6009, Australia.ORCID 0000-0002-9400-893X
Raimund WagenerCenter for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany.ORCID 0000-0003-3186-017X
Enrico BertiniResearch Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy.ORCID 0000-0001-9276-4590
Francesco MuntoniDubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK.ORCID 0000-0002-9102-5232
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.ORCID 0000-0002-5930-2324
National Institute of Neurological Disorders and Stroke · USGreat Ormond Street Hospital · GBHospital Sant Joan de Déu Barcelona · ESUniversity of Cologne · DEBroad Institute · USCincinnati Children's Hospital Medical Center · USInserm · FROregon Health & Science University · USUniversity of Ferrara · ITAssistance Publique – Hôpitaux de Paris · FRBambino Gesù Children's Hospital · ITChildren's Clinical University Hospital · LVChildren's Health Ireland at Crumlin · IEDartmouth–Hitchcock Medical Center · USDuke University · USFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITGillette Children's Specialty Healthcare · USHacettepe University · TRHospital San Borja Arriarán · CLMurdoch University · AU
Funding
University of Washington (UW) Mendelian Genomics Data Coordinating CenterU24HG011746 · NHGRI · UNIVERSITY OF WASHINGTON · PI Susanne May, ALI SHOJAIE · 2021 to 2026
$14.8MThe role of TGF beta pathway dysregulation in pathogenesis of collagen VI-related muscular dystrophyK22NS104135 · NINDS · JOHNS HOPKINS UNIVERSITY · PI MOHASSEL, PAYAM · 2022 to 2024
$666kNHGRI NIH HHS U24 HG011746NINDS NIH HHS K22 NS104135
Abstract
Collagen VI-related dystrophies (COL6-RDs) manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with prominent congenital symptoms and characterised by progressive muscle weakness, joint contractures and respiratory insufficiency, to Bethlem muscular dystrophy, with milder symptoms typically recognised later and at times resembling a limb girdle muscular dystrophy, and intermediate phenotypes falling between UCMD and Bethlem muscular dystrophy. Despite clinical and immunohistochemical features highly suggestive of COL6-RD, some patients had remained without an identified causative variant in
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