Journal article
Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2
American journal of human genetics, Vol.84(1), pp.44-51
01/09/2009
DOI: 10.1016/j.ajhg.2008.12.009
PMCID: PMC2668029
PMID: 19118815
Abstract
Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur in otherwise healthy children after common viral infections such as influenza and parainfluenza. Most ANE is sporadic and nonrecurrent (isolated ANE). However, we identified a 7 Mb interval containing a susceptibility locus (ANE1) in a family segregating recurrent ANE as an incompletely penetrant, autosomal-dominant trait. We now report that all affected individuals and obligate carriers in this family are heterozygous for a missense mutation (c.1880C→T, p.Thr585Met) in the gene encoding the nuclear pore protein Ran Binding Protein 2 (RANBP2). To determine whether this mutation is the susceptibility allele, we screened controls and other patients with ANE who are unrelated to the index family. Patients from 9 of 15 additional kindreds with familial or recurrent ANE had the identical mutation. It arose de novo in two families and independently in several other families. Two other patients with familial ANE had different RANBP2 missense mutations that altered conserved residues. None of the three RANBP2 missense mutations were found in 19 patients with isolated ANE or in unaffected controls. We conclude that missense mutations in RANBP2 are susceptibility alleles for familial and recurrent cases of ANE.
Details
- Title: Subtitle
- Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2
- Creators
- Derek E Neilson - Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center, Cleveland, OH 44106, USAMark D Adams - Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center, Cleveland, OH 44106, USACaitlin M.D Orr - Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center, Cleveland, OH 44106, USADeborah K Schelling - Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center, Cleveland, OH 44106, USARobert M Eiben - Department of Pediatrics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center, Cleveland, OH 44106, USADouglas S Kerr - Department of Pediatrics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center, Cleveland, OH 44106, USAJane Anderson - Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94118, USAAlexander G Bassuk - Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, IA 52242, USAAnn M Bye - Sydney Children's Hospital, Randwick, NSW 2031, AustraliaAnne-Marie Childs - Department of Paediatric Neurology, Leeds Teaching Hospitals Trust, Leeds LS2 9NS, UKAntonia Clarke - Department of Paediatric Neurology, St George's Hospital, London SW17 OQT, UKYanick J Crow - Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds LS9 7TF, UKMaja Di Rocco - Unit of Rare Diseases, II Division of Pediatrics, Gaslini Institute, Genoa 16147, ItalyChristian Dohna-Schwake - Department of Pediatrics, Neuropediatrics, Neonatal and Pediatric Intensive Care, University Children's Hospital Essen, D-45130 Essen, GermanyGregor Dueckers - Department of Pediatrics, Neuropediatrics, Neonatal and Pediatric Intensive Care, University Children's Hospital Essen, D-45130 Essen, GermanyAlfonso E Fasano - Department of Neurology, Gemelli Hospital, Catholic University of Sacred Heart, Rome 00168, ItalyArtemis D Gika - Department of Paediatric Neurology, St George's Hospital, London SW17 OQT, UKDimitris Gionnis - Pediatric Intensive Care Unit, University of Athens, “P & A Kyriakou” Children's Hospital, Athens 11527, GreeceMark P Gorman - Department of Neurology, Children's Hospital Boston, Boston, MA 02115, USAPadraic J Grattan-Smith - Sydney Children's Hospital, Randwick, NSW 2031, AustraliaAnnette Hackenberg - Professor-Hess-Kinderklinik, Klinikum Bremen-Mitte, Bremen 28177, GermanyAlice Kuster - Metabolic Unit, University Hospital of Nantes, Nantes F-44093, FranceMarkus G Lentschig - MR and PET-CT centre Bremen-Mitte, Bremen 28177, GermanyEduardo Lopez-Laso - Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, Córdoba 14004, SpainElysa J Marco - Division of Child Neurology, University of California, San Francisco, San Francisco, CA 94118, USASotiria Mastroyianni - Department of Neurology, University of Athens, “P & A Kyriakou” Children's Hospital, Athens 11527, GreeceJulie Perrier - Department of Paediatric Neurology, University Hospital of Nantes, Nantes F-44093, FranceThomas Schmitt-Mechelke - Neuropediatric Department, Children's Hospital, Lucerne CH-6000, SwitzerlandSerenella Servidei - Department of Neurology, Gemelli Hospital, Catholic University of Sacred Heart, Rome 00168, ItalyAngeliki Skardoutsou - Second Department of Pediatrics, University of Athens, “P & A Kyriakou” Children's Hospital, Athens 11527, GreecePeter Uldall - Department of Child Neurology, Rigshospitalet, Copenhagen DK-2100, DenmarkMarjo S van der Knaap - Department of Child Neurology, VU University Medical Center, Amsterdam 1081 HV, The NetherlandsKarrie C Goglin - Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center, Cleveland, OH 44106, USADavid L Tefft - Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center, Cleveland, OH 44106, USACristin Aubin - Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02142, USAPhilip de Jager - Division of Molecular Immunology, Center for Neurologic Disease, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USADavid Hafler - Division of Molecular Immunology, Center for Neurologic Disease, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USAMatthew L Warman - Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center, Cleveland, OH 44106, USA
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.84(1), pp.44-51
- Publisher
- Elsevier Inc
- DOI
- 10.1016/j.ajhg.2008.12.009
- PMID
- 19118815
- PMCID
- PMC2668029
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Language
- English
- Date published
- 01/09/2009
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984020643902771
Metrics
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