A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA)mutation in exon 1 (D47N)

摘要

Background: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat which is associated with insulin resistant diabetes. The Dunnigan variety (FPL2) is caused by several missense mutations in the lamin A/C (LMNA) gene, most of which are typically located in exon 8 at the codon position 482.