title: RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
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.
authors.affiliation: Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany.
authors.forename: Marco
authors.initials: M
authors.lastname: Henneke
authors.forename: Simone
authors.initials: S
authors.lastname: Diekmann
authors.forename: Andreas
authors.initials: A
authors.lastname: Ohlenbusch
authors.forename: Jens
authors.initials: J
authors.lastname: Kaiser
authors.forename: Volkher
authors.initials: V
authors.lastname: Engelbrecht
authors.forename: Alfried
authors.initials: A
authors.lastname: Kohlschütter
authors.forename: Ralph
authors.initials: R
authors.lastname: Krätzner
authors.forename: Marcos
authors.initials: M
authors.lastname: Madruga-Garrido
authors.forename: Michèle
authors.initials: M
authors.lastname: Mayer
authors.forename: Lennart
authors.initials: L
authors.lastname: Opitz
authors.forename: Diana
authors.initials: D
authors.lastname: Rodriguez
authors.forename: Franz
authors.initials: F
authors.lastname: Rüschendorf
authors.forename: Johannes
authors.initials: J
authors.lastname: Schumacher
authors.forename: Holger
authors.initials: H
authors.lastname: Thiele
authors.forename: Sven
authors.initials: S
authors.lastname: Thoms
authors.forename: Robert
authors.initials: R
authors.lastname: Steinfeld
authors.forename: Peter
authors.initials: P
authors.lastname: Nürnberg
authors.forename: Jutta
authors.initials: J
authors.lastname: Gärtner
mesh_terms: D001921:Brain / Q000473:pathology*; D001927:Brain Diseases / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D020863:Central Nervous System Cysts / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D003586:Cytomegalovirus Infections / Q000473:pathology; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D012260:Ribonucleases / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D025521:Tumor Suppressor Proteins; D012260:Ribonucleases; C425232:RNASET2 protein, human