Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome

Clin Genet. 2014 Nov;86(5):473-4. doi: 10.1111/cge.12471. Epub 2014 Sep 8.

Abstract

Aicardi-Goutières Syndrome is caused by IFIH1 mutations Oda et al.(2014) The American Journal of Human Genetics 95(1): 121-125. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Rice et al.(2014) Nature Genetics 46(5): 503-510.

Publication types

  • Comment

MeSH terms

  • Animals
  • Autoimmune Diseases of the Nervous System / genetics*
  • DEAD-box RNA Helicases / genetics*
  • Female
  • Humans
  • Interferon Type I / immunology*
  • Male
  • Models, Molecular*
  • Mutation / genetics*
  • Mutation, Missense*
  • Nervous System Malformations / genetics*
  • Phenotype*
  • Signal Transduction / genetics*

Substances

  • Interferon Type I
  • DEAD-box RNA Helicases