Genetic Analysis of Lipodystrophies and Recently Found Mutations

  • Hüseyin Onay
  • Barış Akıncı
  • Tahir Atik
  • Tevfik Demir
  • Samim Özen

J Clin Res Pediatr Endocrinol 2015;7(2):63-63

Lipodystophies are a group of diseases which cause selective loss of body fat tissue and tendency to insulin resistance. It may be inherited or acquired. The severity of the associated metabolic complications is proportional to the amount of fat tissue lost. The genetic forms of the disease are congenital generalized lipodystrophy (CGL) and familial partial lipodystrophy (FPL). AGPAT2, BSCL2, CAV1, and PTRF gene mutations are responsible for CGL which is autosomal recessively inherited, while LMNA, PPARG, AKT2, and PLIN1 gene mutations are responsible for autosomal dominantly-inherited FPL.

In a total of 23 patients (10 families with CGL preliminary diagnosis and 4 families with FPL preliminary diagnosis) who applied to Ege University Hospital Medical Genetics Department, AGPAT2, BSCL2, CAV1,PTRF, LMNA, PPARG, AKT2 and PLIN1 gene mutations were investigated by sequence analysis method.

AGPAT2 gene mutation was found in 6 of CGL families, BSCL2 in 3, and PTRF gene mutation in 1 of them. This group had 3 newly defined mutations. LMNA gene mutation was found in 3 of FPL families and one other family presented a PPARG gene mutation. This group had 3 newly defined mutations as well.

Finally, it is important to find out the genetic etiology in lipodystrophies in order to detect family members who are at risk and to prevent metabolic complications.

Keywords: Lipodystrophy, genetics, mutation