Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation.
We present a 6-year-old girl with premature aging associated with mild myopathy, displaying muscle weakness, joint contractures and hyporeflexia. Genetic analysis revealed rare heterozygous point mutation in lamin A/C gene, g.428C>T. Cardiological evaluation showed atrial fibrillation, but we did not find signs of coronary heart disease, which is life-threatening cardiovascular complication in progeria. Electron microscopy of the muscle revealed abnormalities in nuclear architecture, i.e. blebbing, thick lamina and peripheral distribution of heterochromatin. As some diagnostic criteria characteristic for classic progeria are not fulfilled, this case could be regarded as atypical progeria associated with myopathy and atrial fibrillation. To our knowledge, this is the second case of such association described in the literature.
Madej-Pilarczyk
Agnieszka
A
Neuromuscular Unit, Medical Research Center, Polish Academy of Sciences, Pawinskiego 5, Warsaw, Poland.
Kmieć
Tomasz
T
Fidziańska
Anna
A
Rekawek
Joanna
J
Niebrój-Dobosz
Irena
I
Turska-Kmieć
Anna
A
Nestorowicz
Klaudia
K
Jóźwiak
Sergiusz
S
Hausmanowa-Petrusewicz
Irena
I
D001281:Atrial Fibrillation / Q000235:genetics* / Q000503:physiopathology; D009202:Cardiomyopathies / Q000235:genetics* / Q000503:physiopathology; D002467:Cell Nucleus / Q000473:pathology; D002648:Child; D015897:Comorbidity; D003286:Contracture / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007592:Joint Diseases / Q000235:genetics / Q000503:physiopathology; D034904:Lamin Type A / Q000235:genetics*; D009206:Myocardium / Q000473:pathology; D017354:Point Mutation / Q000235:genetics; D011371:Progeria / Q000235:genetics* / Q000503:physiopathology; D012021:Reflex, Abnormal / Q000235:genetics
D005819:Genetic Markers; D034904:Lamin Type A