RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection
- 14 June 2009
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 41 (7) , 773-775
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.Keywords
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