Berardinelli-Seip Congenital Lipodystrophy: Report of an Iranian Girl with a Novel Mutation of BSCL2 Gene

Congenital generalized lipodystrophies (CGLs) are very rare autosomal recessive disorders which have four types. Of the four CGL types, BSCL2 (Berardinelli–Seip Congenital lipodystrophy type 2) is the result of mutations in the BSCL2/seipin gene. BSCL2 that is the most severe lipodystrophic phenotype is characterized by generalized lipodystrophy, overgrowth, acanthosis nigricans, hepatomegaly, insulin resistance, and hyper-triglyceridemi. BSCL2 gene is responsible for encoding a protein called seipin. Seipin is responsible for production and accumulation of lipid droplets in the endoplasmic reticulum membranes and their storage inside the cells. Mutation in this gene disrupts this protein. The result is deficiency of lipid formation in the endoplasmic reticulum which causes CGL2 or BSCL2. We report a 4-year-old Iranian girl with typical findings of BSCL2. Molecular analysis of BSCL2 and BSCL1 genes by the sequencing method showed a novel homozygous mutation in the BSCL2 gene.