Farber disease in a patient from China

Am J Med Genet A. 2020 Sep;182(9):2184-2186. doi: 10.1002/ajmg.a.61752. Epub 2020 Jul 24.

Abstract

Farber disease (FD) is a rare lysosomal storage disorder caused by mutation of the ASAH1 gene. Classic symptoms of FD include subcutaneous nodules, joint pain and hoarseness. Most patients die during childhood. Here we report a 25-year-old female FD patient with rare osteolytic changes of bilateral hands and toes. Genetic analysis revealed novel compound heterozygous mutations in the ASAH1 gene (c.427T>G and c.358G>C). Further research is needed to elucidate the pathophysiological course.

Keywords: ASAH1 mutation; Farber disease; adult; osteolytic change.

Publication types

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

MeSH terms

  • Acid Ceramidase / genetics*
  • Adult
  • Child
  • China
  • Farber Lipogranulomatosis / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Lysosomal Storage Diseases / genetics*
  • Lysosomal Storage Diseases / pathology
  • Mutation

Substances

  • ASAH1 protein, human
  • Acid Ceramidase