RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
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.
Henneke
Marco
M
Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany.
Diekmann
Simone
S
Ohlenbusch
Andreas
A
Kaiser
Jens
J
Engelbrecht
Volkher
V
Kohlschütter
Alfried
A
Krätzner
Ralph
R
Madruga-Garrido
Marcos
M
Mayer
Michèle
M
Opitz
Lennart
L
Rodriguez
Diana
D
Rüschendorf
Franz
F
Schumacher
Johannes
J
Thiele
Holger
H
Thoms
Sven
S
Steinfeld
Robert
R
Nürnberg
Peter
P
Gärtner
Jutta
J
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*
D025521:Tumor Suppressor Proteins; D012260:Ribonucleases; C425232:RNASET2 protein, human