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.
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.
Authors: May Sanyoura; Laura Jacobsen; David Carmody; Daniela Del Gaudio; Gorka Alkorta-Aranburu; Kelly Arndt; Ying Hu; Frances Kobiernicki; Irina Kusmartseva; Mark A Atkinson; Louis H Philipson; Desmond Schatz; Martha Campbell-Thompson; Siri Atma W Greeley Journal: J Clin Endocrinol Metab Date: 2018-01-01 Impact factor: 5.958
Authors: Megan S Kane; Mark E Lindsay; Daniel P Judge; Jemima Barrowman; Colette Ap Rhys; Lisa Simonson; Harry C Dietz; Susan Michaelis Journal: Am J Med Genet A Date: 2013-05-10 Impact factor: 2.802
Authors: Michael V Zaragoza; Cecilia H H Nguyen; Halida P Widyastuti; Linda A McCarthy; Anna Grosberg Journal: Cells Date: 2017-11-01 Impact factor: 6.600