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Aicardi-Goutieres syndrome type 2 (AGS2)

Defects in RNASEH2B are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. 

OTHER NAME(S): AGS2 syndrome


TYPE: microcephaly, mental retardation (MR)

Related patway(s): DNA replication

DNAtraffic protein(s) related to disease: RNASEH2B

OMIM: 610181

Last modification date: Feb. 15, 2012