A novel variant of the AGPAT2 mutation in generalized congenital lipodystrophy, detected by next generation sequencing

Inherited lipodystrophies are rare causes of young onset diabetes characterised by abnormal fat distribution with unique set of clinical features. We present a case of 24 year old lady with young onset diabetes mellitus, acromegaloid features, virilisation, hepatomegaly, hypertriglyceridemia with almost complete absence of subcutaneous and visceral adipose tissue as assessed by DXA scan body composition and MRI abdomen. Based on the clinical presentation, a diagnosis of Berardinelli–Seip generalized lipodystrophy was considered. Genetic analysis using next generation sequencing identified a novel homozygous insertion mutation in 1-acylglycerol-3-phosphate O-acyltransferase 2(AGPAT2) gene which was further confirmed with Sanger sequencing