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