Short clinical reportIdentification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1
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Highlights
► First diagnosis of congenital generalized lipodystrophy type 1 in Persian population. ► Molecular analysis identified a novel nonsense mutation and a missense substitution in the AGPAT2. ► The patients did not have diabetes mellitus or hyperinsulinemia. ► The mutations found are candidates for CGL screening. ► The results expand the knowledge about the genotype–phenotype correlations in CGL.
Keywords
Congenital generalized lipodystrophy
CGL
Berardinelli-Seip syndrome
AGPAT2
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- 1
The first two authors contributed equally to this work.
- 2
These authors contributed equally to this work.
Copyright © 2012 Elsevier Masson SAS. Published by Elsevier Masson SAS