A mutation in the c-fos gene associated with congenital generalized lipodystrophy.

ABSTRACT:

Background

Congenital generalized lipodystrophy (CGL) or Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare genetic syndrome characterized by the absence of adipose tissue. As CGL is thought to be related to malfunctions in adipocyte development, genes involved in the mechanisms of adipocyte biology and maintenance or differentiation of adipocytes, especially transcription factors are candidates. Several genes (BSCL1-4) were found to be associated to the syndrome but not all CGL patients carry mutations in these genes.

Methods and results

In a patient with CGL and insulin resistance we investigated the known candidate genes but the patient did not carry a relevant mutation. Analyses of the insulin activated signal transduction pathways in isolated fibroblasts of the

SUBMITTER: Knebel B 

PROVIDER: S-EPMC3750569 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature