A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton-Merten syndrome and Aicardi-Goutières syndrome

Am J Med Genet A. 2022 Jan;188(1):249-252. doi: 10.1002/ajmg.a.62478. Epub 2021 Aug 28.

Abstract

Pathogenic-activating variants of interferon induced with Helicase C domain 1 (IFIH1) cause Singleton-Merten (S-M) syndrome, which accompanies acro-osteolysis, loss of permanent teeth, and aortic calcification, as well as causing Aicardi-Goutières (A-G) syndrome, which shows progressive encephalopathy, spastic paraplegia, and calcification of basal ganglia. Recently, patients with overlapping syndromes presenting with features of S-M syndrome and A-G syndrome were reported. However, progression of clinical features of this condition has not been fully understood. We report a Japanese boy with a novel pathogenic IFIH1 variant who presented with clinical features of S-M syndrome and A-G syndrome.

Keywords: acro-osteolysis; calcification; paralysis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aortic Diseases
  • Autoimmune Diseases of the Nervous System* / diagnosis
  • Autoimmune Diseases of the Nervous System* / genetics
  • Autoimmune Diseases of the Nervous System* / pathology
  • Dental Enamel Hypoplasia
  • Humans
  • Interferon-Induced Helicase, IFIH1 / genetics
  • Interferons*
  • Japan
  • Male
  • Metacarpus / abnormalities
  • Muscular Diseases
  • Nervous System Malformations
  • Odontodysplasia
  • Osteoporosis
  • Vascular Calcification

Substances

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

Supplementary concepts

  • Aicardi-Goutieres syndrome
  • Singleton Merten syndrome