Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease
- 1 February 2009
- journal article
- case report
- Published by Ovid Technologies (Wolters Kluwer Health) in Stroke
- Vol. 40 (2), e11-4
- https://doi.org/10.1161/strokeaha.108.531780
Abstract
Background and Purpose— Laminopathies arise through mutations in genes encoding Lamin A/C ( LMNA ) or associated proteins. They cause 4 different groups of disorders with diverse severity and often overlapping features: diseases of striated muscle (leading to muscular or cardiac involvement), peripheral neuropathy, lipodystrophy syndromes, and accelerated aging disorders. Summary of Case— We report on a familial case of atypical Werner syndrome (a progeroid syndrome with Werner syndrome phenotype but without typical RECQL2 mutation) presenting with acute ischemic cerebral disease or peripheral artery disease associated with diffuse atherosclerosis, attributable to transmission of a novel LMNA mutation. Conclusions— In young patients with ischemic events and a positive family history, other progeroid features have to be searched and LMNA testing has to be considered, allowing for genetic counseling and presymptomatic testing of at-risk relatives.This publication has 6 references indexed in Scilit:
- Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activationNature, 2005
- Genomic instability in laminopathy-based premature agingNature Medicine, 2005
- Laminopathies and AtherosclerosisArteriosclerosis, Thrombosis, and Vascular Biology, 2004
- LMNA mutations in atypical Werner's syndromeThe Lancet, 2003
- Werner's SyndromeNew England Journal of Medicine, 1997
- Positional Cloning of the Werner's Syndrome GeneScience, 1996