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RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection

Official URL:https://doi.org/10.1038/ng.398
PubMed:View item in PubMed
Creators Name:Henneke, M. and Diekmann, S. and Ohlenbusch, A. and Kaiser, J. and Engelbrecht, V. and Kohlschuetter, A. and Kraetzner, R. and Madruga-Garrido, M. and Mayer, M. and Opitz, L. and Rodriguez, D. and Rueschendorf, F. and Schumacher, J. and Thiele, H. and Thoms, S. and Steinfeld, R. and Nuernberg, P. and Gaertner, J.
Journal Title:Nature Genetics
Journal Abbreviation:Nat Genet
Volume:41
Number:7
Page Range:773-775
Date:July 2009
Keywords:Brain, Brain Diseases, Central Nervous System Cysts, Cytomegalovirus Infections, Hereditary Central Nervous System Demyelinating Diseases, Molecular Sequence Data, Mutation, Ribonucleases, Tumor Suppressor Proteins
Abstract:Congenital cytomegalovirus brain infection without symptoms at birth can cause a static encephalopathy with characteristic patterns of brain abnormalities. Here we show that loss-of-function mutations in the gene encoding the RNASET2 glycoprotein lead to cystic leukoencephalopathy, an autosomal recessive disorder with an indistinguishable clinical and neuroradiological phenotype. Congenital cytomegalovirus infection and RNASET2 deficiency may both interfere with brain development and myelination through angiogenesis or RNA metabolism.
ISSN:1061-4036
Publisher:Nature Publishing Group (U.S.A.)
Item Type:Article

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