Repository of Research and Investigative Information

Repository of Research and Investigative Information

Hormozgan University of Medical Sciences

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

(2015) Berardinelli-Seip Congenital Lipodystrophy:Report of an Iranian Girl with a Novel Mutation of BSCL2 Gene. g3m..

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Abstract

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 which is the most severe lipodystrophic phenotype is characterized by generalized lipodystrophy, overgrowth, acanthosis nigricans, hepatomegaly, insulin resistance, and hyper-triglyceridemi. BSCL2 gene is responsible to encode a protein which is called seipin. Seipin protein 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 the seipin protein. The result is deficiency of lipid formation in the endoplasmic reticulum and causes CGL2 or BSCL2. We here report a 4 year old Iranian girl with typical findings of BSCL2. Molecular analysis of BSCL2 and BSCL1 genes by sequencing method showed a novel homozygous mutation in BSCL2 gene.

Item Type: Article
Keywords: Congenital Generalized Lipodystrophy; Berardinelli-Seip lypodystrophy; BSCL2 gene; Seipin; Iranian Novel mutation.
Subjects: genetic
Divisions: Research Vice-Chancellor Department > Molecular Medicine Research Center
Depositing User: مرکز تحقیقات پزشکی مولکولی
URI: http://eprints.hums.ac.ir/id/eprint/2116

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