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

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

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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.

Magnetic resonance imagingAicardi-Goutières syndromeSAMHD1InterferonopathyTemporal white matter cysts

Barbara,Oleksy、Hanna,Mierzewska、Jolanta,Tryfon、Maria,Wypch?o、Krystyna,Wasilewska、Zofia,Zalewska-Miszkurka、Rafa?,P?oski、Ma?gorzata,Rydzanicz、El?bieta,Szczepanik

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Clinic of Paediatric Neurology, Institute of Mother and Child, Warsaw, Poland

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland

2022

10.1159/000518941

Molecular syndromology

Molecular syndromology

SCI
ISSN：1661-8769
年,卷(期)：2022.13(2)
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