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Aicardi-Goutieres Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts.

ABSTRACT: We report on the first Polish patient diagnosed with the Aicardi-Goutières syndrome 5 (AGS5). AGS is caused by mutations in one of 9 genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH, LSM11, RNU7-1) which stimulate the type I interferon response. The diagnosis was confirmed by identifying a compound heterozygous mutation p.(Phe165Ser)/p.(Gln235*) in the SAMHD1 gene using whole-exome sequencing. The cystic lesions in the temporal lobes are an uncommon finding in the presented patient carrying a SAMHD1 mutation. Reporting new cases expands the range of phenotypes and plays the crucial role in understanding the AGS pathogenesis and creates new therapy approaches.

SUBMITTER: Oleksy B

PROVIDER: S-EPMC8928195 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature

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Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts.

Oleksy Barbara B Mierzewska Hanna H Tryfon Jolanta J Wypchło Maria M Wasilewska Krystyna K Zalewska-Miszkurka Zofia Z Płoski Rafał R Rydzanicz Małgorzata M Szczepanik Elżbieta E

Molecular syndromology 20211118 2

We report on the first Polish patient diagnosed with the Aicardi-Goutières syndrome 5 (AGS5). AGS is caused by mutations in one of 9 genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH, LSM11, RNU7-1) which stimulate the type I interferon response. The diagnosis was confirmed by identifying a compound heterozygous mutation p.(Phe165Ser)/p.(Gln235*) in the SAMHD1 gene using whole-exome sequencing. The cystic lesions in the temporal lobes are an uncommon finding in the pre ...[more]

PMID: 35418820

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