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

Published: 7 January 2016
Author(s): Nilufer Ozdemir Kutbay, Banu Sarer Yurekli, Huseyin Onay, Canan Tuncer Altay, Tahir Atik, Zeliha Hekimsoy, Fusun Saygili, Baris Akinci
Issue: January 2016
Section: Developments in Internal Medicine

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.