title: 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: Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada. Electronic address: ddyment@cheo.on.ca.
authors: D A
authors: DA
authors: Dyment
authors: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors: W T
authors: WT
authors: Gibson
authors: Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
authors: L
authors: L
authors: Huang
authors: Department of Endocrinology and Metabolism, University of Calgary, Calgary, Canada.
authors: H
authors: H
authors: Bassyouni
authors: Robarts Research Institute, University of Western Ontario, London, Canada.
authors: R A
authors: RA
authors: Hegele
authors: Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Canada.
authors: A M
authors: AM
authors: Innes
mesh_terms: D000328:Adult; D000483:Alleles; D005260:Female; D006801:Humans; D052497:Lipodystrophy, Congenital Generalized / Q000175:diagnosis* / Q000235:genetics*; D008958:Models, Molecular; D009154:Mutation; D047495:PPAR gamma / Q000737:chemistry / Q000235:genetics*; D010641:Phenotype; D011487:Protein Conformation; D054730:Protein Interaction Domains and Motifs; D017422:Sequence Analysis, DNA
chemical_list: D047495:PPAR gamma
keywords: Congenital generalized lipodystrophy; Diabetes; Hypertriglyceridemia; PPARG