A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient

Br J Dermatol. 2018 Feb;178(2):e111-e113. doi: 10.1111/bjd.15869. Epub 2017 Dec 22.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aortic Diseases / genetics*
  • Aortic Diseases / pathology
  • Child, Preschool
  • Dental Enamel Hypoplasia / genetics*
  • Dental Enamel Hypoplasia / pathology
  • Exome Sequencing
  • Female
  • Humans
  • Interferon-Induced Helicase, IFIH1 / genetics*
  • Metacarpus / abnormalities*
  • Metacarpus / pathology
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Mutation, Missense / genetics*
  • Odontodysplasia / genetics*
  • Odontodysplasia / pathology
  • Osteoporosis / genetics*
  • Osteoporosis / pathology
  • Polymorphism, Single Nucleotide / genetics
  • Vascular Calcification / genetics*
  • Vascular Calcification / pathology

Substances

  • IFIH1 protein, human
  • Interferon-Induced Helicase, IFIH1

Supplementary concepts

  • Singleton Merten syndrome