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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Cystic leukoencephalopathy without megalencephaly

ABSTRACT: The cystic leukoencephalopathy without megalencephaly has been defined as distinct autosomal-recessive syndrome of quasi-static encephalopathy with normo- or microcephaly, impaired psychomotor development and characteristic pattern on brain MRI. We identified mutations in the gene encoding the RNASET2 glycoprotein in seven affected individuals as the cause of disease. The results suggest that RNASET2 plays an important role in central nervous system myelination and development. 2-Color dye swap design independent for two different families including technical and biologial replicates for affected family members (disease) and not affected family members (controls).

ORGANISM(S): Homo sapiens

SUBMITTER: Lennart Opitz

PROVIDER: E-GEOD-11964 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

Henneke Marco M 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

Nature genetics 20090614 7

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 ...[more]

PMID: 19525954

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