RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant

RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant

Abstract Background Ribonucleases (RNases) are crucial for degradation of ribosomal RNA (rRNA). RNASET2 as a subtype of RNASEs is a 256 amino acid protein, encoded by RNASET2 gene located on chromosome six. Defective RNASET2 leads to RNASET2-deficient leukoencephalopathy, a rare autosomal recessive...

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Main Authors: Reyhaneh Kameli, Man Amanat, Zahra Rezaei, Sareh Hosseionpour, Sedigheh Nikbakht, Houman Alizadeh, Mahmoud Reza Ashrafi, Abdolmajid Omrani, Masoud Garshasbi, Ali Reza Tavasoli
Format: Article
Language:English
Published: BMC 2019-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Ribonuclease
RNASET2-deficienct leukoencephalopathy
Cystic leukoencephalopathy
Aicardi-Goutieres syndrome
Congenital cytomegalovirus infection
Online Access:http://link.springer.com/article/10.1186/s13023-019-1155-9

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http://link.springer.com/article/10.1186/s13023-019-1155-9

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