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

2014; Elsevier BV; Volume: 57; Issue: 9 Linguagem: Inglês

10.1016/j.ejmg.2014.06.006

1878-0849

David A. Dyment, William T. Gibson, Linda Huang, Hanan Bassyouni, Robert A. Hegele, A. Micheil Innes,

Diabetes and associated disorders

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.