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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; Foulds, Nicola; Hammans, Simon R; Foley, A Reghan; Fare, Charlotte M; Ford, Alice F; Ogasawara, Masashi; Sato, Aki; Iida, Aritoshi; Munot, Pinki; Ambegaonkar, Gautam; Phadke, Rahul; O'Donovan, Dominic G; Buchert, Rebecca; Grimmel, Mona; Töpf, Ana; Zaharieva, Irina T; Brady, Lauren; Hu, Ying; Lloyd, Thomas E; Klein, Andrea; Steinlin, Maja; Kuster, Alice; Mercier, Sandra; Marcorelles, Pascale; Péréon, Yann; Fleurence, Emmanuelle; Manzur, Adnan; Ennis, Sarah; Upstill-Goddard, Rosanna; Bello, Luca; Bertolin, Cinzia; Pegoraro, Elena; Salviati, Leonardo; French, Courtney E; Shatillo, Andriy; Raymond, F Lucy; Haack, Tobias B; Quijano-Roy, Susana; Böhm, Johann; Nelson, Isabelle; Stojkovic, Tanya; Evangelista, Teresinha; Straub, Volker.
Affiliation
  • Kim HJ; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, United States.
  • Mohassel P; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States.
  • Donkervoort S; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States.
  • Guo L; Department of Biochemistry & Biophysics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.
  • O'Donovan K; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA, United States.
  • Coughlin M; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, United States.
  • Lornage X; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, United States.
  • Foulds N; Département Médecine Translationnelle et Neurogénétique, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale U1258, Centre National de la Recherche Scientifique UMR7104, Université de Strasbourg, Illkirch, France.
  • Hammans SR; Wessex Clinical Genetics Services, Princess Anne Hospital, Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, England.
  • Foley AR; Wessex Neurological Centre, University Hospital Southampton, Southampton, UK.
  • Fare CM; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States.
  • Ford AF; Department of Biochemistry & Biophysics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.
  • Ogasawara M; Department of Biochemistry & Biophysics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.
  • Sato A; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8502, Japan.
  • Iida A; Medical Genome Center, NCNP, Kodaira, Tokyo, Japan.
  • Munot P; Department of Neurology, Niigata City General Hospital, Niigata, Japan.
  • Ambegaonkar G; Medical Genome Center, NCNP, Kodaira, Tokyo, Japan.
  • Phadke R; The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, UK.
  • O'Donovan DG; Department of Paediatric Neurology, Cambridge University Hospital NHS Trust, Addenbrookes Hospital, Cambridge, CB2 0QQ, UK.
  • Buchert R; Division of Neuropathology, University College London Hospitals NHS Foundation Trust National Hospital for Neurology and Neurosurgery London, UK and Division of Neuropathology, UCL Institute of Neurology, Dubowitz Neuromuscular Centre, London, UK.
  • Grimmel M; Department of Histopathology Box 235, Level 5 John Bonnett Clinical Laboratories Addenbrooke's Hospital, Cambridge, UK.
  • Töpf A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
  • Zaharieva IT; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
  • Brady L; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Hu Y; The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, UK.
  • Lloyd TE; Division of Neuromuscular & Neurometabolic Disorders, Department of Pediatrics, McMaster University, Hamilton Health Sciences Centre, Hamilton, ON, Canada.
  • Klein A; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States.
  • Steinlin M; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
  • Kuster A; Division of Neuropaediatrics, Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
  • Mercier S; Pediatric Neurology, University Children's Hospital Basel, University of Basel, Basel, Switzerland.
  • Marcorelles P; Division of Neuropaediatrics, Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
  • Péréon Y; Department of Neurometabolism, University Hospital of Nantes, Nantes, France.
  • Fleurence E; CHU Nantes, Service de génétique médicale, Centre de Référence des Maladies Neuromusculaires AOC, 44000, Nantes, France.
  • Manzur A; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000, Nantes, France.
  • Ennis S; Service d'anatomopathologie, CHU Brest and EA 4685 LIEN, Université de Bretagne Occidentale, Brest, France.
  • Upstill-Goddard R; CHU de Nantes, Centre de Référence des Maladies Neuromusculaires, Filnemus, Euro-NMD, Hôtel-Dieu, Nantes, France.
  • Bello L; Etablissement de Santé pour Enfants et Adolescents de la région Nantaise, Nantes, France.
  • Bertolin C; The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, UK.
  • Pegoraro E; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Salviati L; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.
  • French CE; Department of Neurosciences, DNS, University of Padova, Padova, Italy.
  • Shatillo A; Clinical Genetics Unit, Department of Women and Children's Health, University of Padova, IRP Città della Speranza, Padova, Italy.
  • Raymond FL; Department of Neurosciences, DNS, University of Padova, Padova, Italy.
  • Haack TB; Clinical Genetics Unit, Department of Women and Children's Health, CIR-Myo Myology Center, University of Padova, IRP Città della Speranza, Padova, Italy.
  • Quijano-Roy S; Department of Paediatrics, University of Cambridge, Cambridge, UK.
  • Böhm J; Institute of Neurology, Psychiatry and Narcology of NAMS of Ukraine, Kharkiv, Ukraine.
  • Nelson I; Cambridge Institute of Medical Research, University of Cambridge, Cambridge, UK.
  • Stojkovic T; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
  • Evangelista T; Neuromuscular Unit, Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches, France.
  • Straub V; Département Médecine Translationnelle et Neurogénétique, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale U1258, Centre National de la Recherche Scientifique UMR7104, Université de Strasbourg, Illkirch, France.
Nat Commun ; 13(1): 2306, 2022 04 28.
Article in En | MEDLINE | ID: mdl-35484142
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Dystrophy, Oculopharyngeal / Heterogeneous-Nuclear Ribonucleoprotein Group A-B / Amyotrophic Lateral Sclerosis Limits: Animals / Humans Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2022 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Dystrophy, Oculopharyngeal / Heterogeneous-Nuclear Ribonucleoprotein Group A-B / Amyotrophic Lateral Sclerosis Limits: Animals / Humans Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2022 Document type: Article Affiliation country: Country of publication: