Genetic Analysis of Lipodystrophies and Novel Mutations

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

J Clin Res Pediatr Endocrinol 2015;7(2):90-90

Lipodystrophies are a group of disorders characterized by selective loss of body fat and predisposition to insulin resistance. Lipodystrophies are caused by genetic defects or acquired conditions. Severity of the associated metabolic complications is determined by the extend of fat loss. Congenital generalized lipodystrophy (CGL) and familial partial lipodystrophy (FPL) are two subgroups of genetic lipodystrophies. Mutations in the AGPAT2, BSCL2, CAV1, PTRF genes cause autosomal recessive CGL and mutations in the LMNA, PPARG, AKT2, PLIN1 genes cause autosomal dominant FPL. Twenty-three patients from 10 CGL and 4 FPL families were investigated by sequencing for causal mutations in the AGPAT2, BSCL2, CAV1, PTRF, LMNA, PPARG, AKT2, and PLIN1 genes according to clinical findings and family information at Ege University Faculty of Medicine, Department of Medical Genetics. In CGL families, mutations were detected in the AGPAT2 (6 families), BSCL2 (3 families), and PTRF (1 family) genes. Three novel mutations were detected in the CGL group. Three families had mutations in LMNA gene and only one family had mutation in the PPARG gene in the FPL group. Three of these mutations were novel. As a result, identifying the genetic background of lipodystrophies will help to prevent metabolic complications and to detect the individuals in advance who have the risk of developing lipodystrophy.

Keywords: Lipodystrophies, genetics, mutations