Metabolic phenotypes in male subjects with Dunnigan type of familial partial Lipodystrophy due to a lamin A/C R482W mutation

Context: Familial partial lipodystrophy (FPLD) is a genetically determined disease with defects in body fat distribution and metabolic abnormalities caused by mutations in lamin A/C. Although lamin A/C R482W is autosomal inherited, in a previous report male subjects were reported not to be metabolically affected suggesting male carriers do not need specialized endocrine care. The aim of the present study was to characterize a newly identified caucasian family carrying a lamin A/C R482W mutation in order to proof the hypothesis that this mutation does not cause metabolic phenotypes in males. Methods: Besides meas…