Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications.
Renan Magalhães Montenegro JúniorGrayce Ellen da Cruz Paiva LimaVirgínia Oliveira FernandesAna Paula Dias Rangel MontenegroClarisse Mourão Melo PonteLívia Vasconcelos MartinsDaniel Pascoalino PinheiroMaria Elisabete Amaral de MoraesManoel Odorico de Moraes FilhoCatarina Brasil d'AlvaPublished in: Diabetology & metabolic syndrome (2020)
We describe two unrelated patients with type 1 CGL due to Leu124Serfs*26, a novel AGPAT2 frameshift mutation, presenting as early cardiovascular disease. These findings suggest an association between Leu124Serfs*26 and a more aggressive phenotype.