Severe early-onset obesity
Gene: PPARG
PMID: 9753710. In a German obesity cohort, 4 individuals heterozygous for a p.Pro115Gln mutation were markedly more obese than the other 117 obesity participants. Age of the 4 carriers ranged from 32-74 years, not early onset. 3/4 also had type 2 diabetes. In vitro analyses showed a permanent activation of PPARg2 that led to an accelerated rate of adipocyte differentiation and increased fat accumulation in a tissue-culture model of adipogenesis.
PMID: 9425261. In a Caucasian cohort of 26, with type 2 diabetes and many with obesity, missense p.Pro12Ala was identified. This variant has 1977 homozygotes in gnomAD.
PPARG variants known to cause familial partial lipodystrophy.Created: 4 Nov 2021, 4:56 a.m. | Last Modified: 4 Nov 2021, 4:56 a.m.
Panel Version: 0.74
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Obesity, severe, MIM#601665
Publications
Gene: pparg has been classified as Red List (Low Evidence).
Phenotypes for gene: PPARG were changed from [Obesity, resistance to]; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3, 604367; Obesity, severe, 601665; {Diabetes, type 2}, 125853; Carotid intimal medial thickness 1, 609338 to Obesity, severe, MIM#601665
Publications for gene: PPARG were set to
Mode of inheritance for gene: PPARG was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: PPARG was added gene: PPARG was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPARG were set to [Obesity, resistance to]; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3, 604367; Obesity, severe, 601665; {Diabetes, type 2}, 125853; Carotid intimal medial thickness 1, 609338