Brief Communication abstract
Nature Genetics 41, 773 - 775 (2009)
Published online: 14 June 2009 | doi:10.1038/ng.398
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection
Marco Henneke1, Simone Diekmann1, Andreas Ohlenbusch1, Jens Kaiser1, Volkher Engelbrecht2, Alfried Kohlschütter3, Ralph Krätzner1, Marcos Madruga-Garrido4, Michèle Mayer5, Lennart Opitz6, Diana Rodriguez5,7,8, Franz Rüschendorf9, Johannes Schumacher10,11, Holger Thiele12, Sven Thoms1, Robert Steinfeld1, Peter Nürnberg12,13 & Jutta Gärtner1
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.
- Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany.
- Institute of Diagnostic and Interventional Radiology, Hospital St. Marien, Amberg, Germany.
- Department of Pediatrics, University Medical Center, Hamburg-Eppendorf, Germany.
- Department of Neuropediatrics, University Hospital Virgen del Rocío, Sevilla, Spain.
- AP-HP, Department of Neuropediatrics, Armand Trousseau Hospital, Paris, France.
- DNA Microarray Facility, Georg August University, Göttingen, Germany.
- INSERM UMR S546, Paris, France.
- Pierre and Marie Curie University, Paris, France.
- Max Delbrück Center for Molecular Medicine (MDC), Berlin-Buch, Germany.
- Institute of Human Genetics, University of Bonn, Germany.
- Genetic Basis of Mood and Anxiety Disorders, National Institutes of Health (NIH), Bethesda, Maryland, USA.
- Cologne Center for Genomics (CCG) and Institute for Genetics, University of Cologne, Germany.
- Cologne Excellence Cluster on Cellular Stress Responses in Aging-associated Diseases (CECAD), University of Cologne, Germany.
Correspondence to: Jutta Gärtner1 e-mail: gaertnj@med.uni-goettingen.de
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