Ontology highlight
ABSTRACT:
SUBMITTER: Oda H
PROVIDER: S-EPMC4085581 | biostudies-literature | 2014 Jul
REPOSITORIES: biostudies-literature
American journal of human genetics 20140701 1
Aicardi-Goutières syndrome (AGS) is a rare, genetically determined early-onset progressive encephalopathy. To date, mutations in six genes have been identified as etiologic for AGS. Our Japanese nationwide AGS survey identified six AGS-affected individuals without a molecular diagnosis; we performed whole-exome sequencing on three of these individuals. After removal of the common polymorphisms found in SNP databases, we were able to identify IFIH1 heterozygous missense mutations in all three. In ...[more]