A rare frameshift mutation in the AGPAT2 gene in a family from gaza with congenital generalized lipodystrophy.

The clinical phenotype of patients II-3, II-6 and II-13, with correlation to the deleterious mutation found in the AGPAT2 gene, suggests high probability of type 1 CGL. Homozygosity for the mutation in our pedigree is associated with a severe clinical presentation demonstrated by extremely excessive triglyceride values accompanied with low HDL values, DM resulting in early complication onset and hypoleptinaemia. Together with the characteristic phenotype, and the deleterious mutation, the pathogenicity of this mutation is very likely; heterozygosity for the mutation demonstrate a phenotype consisting of glucose intolerance and hypertriglyceridaemia, which may be considered a partial phenotype. [Extracted from the article]