Open AccessAicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts
Author(s) -
Barbara Oleksy,
Hanna Mierzewska,
Jolanta Tryfon,
Maria Wypchło,
Krystyna Wasilewska,
Zofia Zalewska-Miszkurka,
Rafał Płoski,
Małgorzata Rydzanicz,
Elżbieta Szczepanik
Publication year - 2021
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000518941
Subject(s) - samhd1 , mutation , compound heterozygosity , nijmegen breakage syndrome , medicine , genetics , exome sequencing , pathogenesis , phenotype , adar , gene , biology , pathology , gene expression , dna damage , dna , polymerase chain reaction , reverse transcriptase , rna editing , ataxia telangiectasia
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.