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

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.

• Authors: D A Dyment, W T Gibson, L Huang, H Bassyouni, R A Hegele, A M Innes
• Journal: European journal of medical genetics (Eur J Med Genet) Vol. 57 Issue 9 Pg. 524-6 (Sep 2014) ISSN: 1878-0849 [Electronic] Netherlands
• PMID: 24980513 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Chemical References

• PPAR gamma

Topics

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