Adult progeria: a new mutation in the WRN gene

BMJ Case Rep. 2022 Nov 17;15(11):e252646. doi: 10.1136/bcr-2022-252646.

Abstract

Werner syndrome (WS), also known as adult progeria, is a rare autosomal recessive inherited progeroid syndrome characterised by multiple features consistent with accelerated ageing. This disease is associated with several rheumatic conditions such as early osteoarthritis and osteoporosis, sarcopenia, soft-tissue calcifications, gout, limb ulcers and scleroderma-like skin features. WS should be included in the differential diagnosis of systemic sclerosis. The diagnosis is clinical, and in 90% of cases, a genetic test reveals a pathogenic variant of the WRN gene.WRN encodes a member of the RecQ family of DNA helicases and has a role in DNA repair. 86 different pathological WRN mutations have been identified so far. Here we present a case report of a typical WS patient associated with a newly described genetic variant of the WRN gene.

Keywords: Connective tissue disease; Genetics; Rheumatology.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Exodeoxyribonucleases / genetics
  • Humans
  • Mutation
  • RecQ Helicases / genetics
  • Werner Syndrome Helicase / genetics
  • Werner Syndrome* / diagnosis
  • Werner Syndrome* / genetics

Substances

  • Werner Syndrome Helicase
  • RecQ Helicases
  • Exodeoxyribonucleases
  • WRN protein, human