Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease.
OBJECTIVE
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.


METHODS
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.
Renard
Dimitri
D
Department of Neurology, CHU Montpellier, Hôpital Gui de Chauliac, Montpellier, France. dimitrirenard@hotmail.com
Fourcade
Genevieve
G
Milhaud
Didier
D
Bessis
Didier
D
Esteves-Vieira
Vera
V
Boyer
Amandine
A
Roll
Patrice
P
Bourgeois
Patrice
P
Levy
Nicolas
N
De Sandre-Giovannoli
Annachiara
A
D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002545:Brain Ischemia / Q000235:genetics* / Q000473:pathology; D004247:DNA / Q000235:genetics; D005190:Family; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D014057:Tomography, X-Ray Computed; D014898:Werner Syndrome / Q000235:genetics* / Q000473:pathology
D034904:Lamin Type A; D004247:DNA