Article
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
Nature genetics - 1 Jul 2009
Henneke Marco, Diekmann Simone, Ohlenbusch Andreas, Kaiser Jens, Engelbrecht Volkher, Kohlschütter Alfried, Krätzner Ralph, Madruga-Garrido Marcos, Mayer Michèle, Opitz Lennart, Rodriguez Diana, Rüschendorf Franz, Schumacher Johannes, Thiele Holger, Thoms Sven, Steinfeld Robert, Nürnberg Peter, Gärtner Jutta
Abstract excerpt
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...
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