Article
Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2018
Schmelzer Lisa, Smitka Martin, Wolf Christine, Lucas Nadja, Tüngler Victoria, Hahn Gabriele, Tzschach Andreas, Di Donato Nataliya, Lee-Kirsch Min Ae, von der Hagen Maja
Abstract excerpt
Aicardi-Goutières syndrome (AGS) is a hereditary inflammatory encephalopathy resulting in severe neurological damage in the majority of cases. We report on two siblings with AGS6 due to compound heterozygosity for a known and a novel mutation in the ADAR gene and a strikingly variable phenotype. The first sibling presented at 12 months of age with a subacute encephalopathy following a mild respiratory infection....
Topics
- Adenosine Deaminase
- Adolescent
- Autoimmune Diseases of the Nervous System
- Child, Preschool
- Female
- Humans
- Male
- Mutation
- Nervous System Malformations
- Phenotype
- RNA-Binding Proteins