a gene located at chromosome 16p13.2(English)

  • encodes a deubiquitinating proteolytic enzyme that can cleave multiple ubiquitin chain linkages. Mutations are either point mutations or gene deletions, and are diagnosed through either whole-exome sequencing or chromosome microarray analysis. The inheritance pattern of the disease caused by USP7 mutations is autosomal dominant, which means that someone who receives a single copy of an abnormal USP7 gene from either parent may have this disorder. To date most cases are de novo, meaning the mutation/deletion has been spontaneous and not inherited
  • Genetics, Neuropathy
  • https://www.usp…untain-syndrome