Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes

  title={Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes},
  author={Antonei B Csoka and Henian Cao and Paul Sammak and Dan Constantinescu and Gerald Schatten and Robert A. Hegele},
  journal={Journal of Medical Genetics},
  pages={304 - 308}
HGPS recapitulates most of the pathologies of normal aging at an accelerated rate, with sparing of the nervous system. 3 Children with HGPS usually appear normal in early infancy, but at about six months of age begin to experience profound growth delay. 4 Scalp hair, eyebrows, and eyelashes are typically lost resulting in total alopecia. 5 A gradual, almost complete lipodystrophy begins in infancy, and the skin acquires an abnormally aged appear- ance with prominent veins. In some children… 

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Immunofluorescence microscopic analysis of the patient's cultured skin fibroblasts revealed nuclear disorganization and abnormal distribution of A-type lamins, similar to that observed in patients harboring other LMNA mutations, which broadens the clinical spectrum of laminopathies, pointing out the clinical variability of lipodystrophy and the unreported possibility of hypertrophic cardiomyopathy and skin involvement.