Case report: concurrent de novo pathogenic variants in the lmna gene as a cause of sporadic partial lipodystrophy

HIGHLIGHTS

• What: The authors report a non-familial (sporadic) case of partial lipodystrophy caused by a novel genetic mechanism involving closely linked de novo pathogenic variants in the LMNA gene. Using molecular modeling, molecular dynamics simulation, and predictive bioinformatic analysis, the authors propose mechanisms by which these variants lead to lamin A/C Ig-like domain instability and affect lamin A/C function. The clinical presentation of the patient does not correspond to the classic form of acquired partial lipodystrophy (Barraquer-Simmonds syndrome), whose etiopathogenesis remains unknown; and thus the authors propose to refer to this case as . . .
  

   

  

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