RNASET2-deficient Cystic Leukoencephalopathy Resembles Congenital Cytomegalovirus Brain Infection

Nat Genet. 2009 Jul;41(7):773-5. doi: 10.1038/ng.398. Epub 2009 Jun 14.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / pathology*
  • Brain Diseases / congenital
  • Brain Diseases / genetics*
  • Brain Diseases / pathology
  • Central Nervous System Cysts / congenital
  • Central Nervous System Cysts / genetics*
  • Central Nervous System Cysts / pathology
  • Cytomegalovirus Infections / pathology
  • Hereditary Central Nervous System Demyelinating Diseases / genetics*
  • Hereditary Central Nervous System Demyelinating Diseases / pathology
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Ribonucleases / genetics*
  • Tumor Suppressor Proteins / genetics*


  • Tumor Suppressor Proteins
  • Ribonucleases
  • RNASET2 protein, human

Associated data

  • GENBANK/BV729114
  • GENBANK/BV729116
  • GEO/GSE11964
  • RefSeq/NM_003730