Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome

Eur J Med Genet. 2014 Sep;57(9):524-6. doi: 10.1016/j.ejmg.2014.06.006. Epub 2014 Jun 28.

Abstract

We present an individual with a generalized and infantile onset lipodystrophy who later developed hypertriglyceridemia, pancreatitis, refractory diabetes, irregular menses and renal failure. She showed the hallmark features of a congenital, generalized lipodystrophy (CGL). Sequencing PPARG identified two pathogenic mutations; c.413_416delAATG; p.Glu138ValfsX168 and c.490C>T; p.R164W. The phenotype and presence of two mutations suggests that biallelic mutations at PPARG cause a CGL similar to that observed with biallelic AGPAT2 or BSCL2 mutations.

Keywords: Congenital generalized lipodystrophy; Diabetes; Hypertriglyceridemia; PPARG.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles*
  • Female
  • Humans
  • Lipodystrophy, Congenital Generalized / diagnosis*
  • Lipodystrophy, Congenital Generalized / genetics*
  • Models, Molecular
  • Mutation*
  • PPAR gamma / chemistry
  • PPAR gamma / genetics*
  • Phenotype
  • Protein Conformation
  • Protein Interaction Domains and Motifs
  • Sequence Analysis, DNA

Substances

  • PPAR gamma