AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome

• Published in: Annales d'endocrinologie Vol. 74; no. 1; pp. 59 - 61
• Main Authors: Rostami, Parastoo, Nakhaeimoghadam, Maryam, Bijani, Faezeh-Moghimpour, Sotoudeh, Arya, Rabbani, Ali, Hilbert, Pascale, Rezaei, Nima
• Format: Journal Article
• Language: English
• Published: Paris Elsevier Masson SAS 01-02-2013; Masson
• Subjects: Acyltransferases - genetics; Associated diseases and complications; Biological and medical sciences; Child; Diabetes. Impaired glucose tolerance; Endocrine pancreas. Apud cells (diseases); Endocrinology & Metabolism; Endocrinopathies; Female; Fundamental and applied biological sciences. Psychology; Humans; Insulin Resistance - genetics; Internal Medicine; Lipodystrophy, Congenital Generalized - complications; Lipodystrophy, Congenital Generalized - diagnosis; Lipodystrophy, Congenital Generalized - genetics; Lipodystrophy, Congenital Generalized - metabolism; Medical sciences; Mutation; Vertebrates: endocrinology; Endocrinopathy; Human; Skin disease; Berardinelli lipodystrophy; Congenital; Gene; Adipose tissue disorders; Mutation; Child; Genetic disease
• ISSN: 0003-4266; 2213-3941
• DOI: 10.1016/j.ando.2012.11.008

Abstract Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is an autosomal recessive disorder, caused by mutation in the AGPAT2 gene, which could lead to insulin resistance and variety of complications. Herein, a 7-year old girl is presented with generalized loss of subcutaneous fat, prominent pectoral and thigh muscles and an early telarche. Laboratory studies revealed an elevated level of serum triglyceride. Ultrasonograph demonstrated enhanced size of ovary containing multiple mature follicles. Considering the clinical phenotype, AGPAT2 gene was sequenced which showed homozygote c.514G > A mutation. Therefore, the diagnosis of BSCL was confirmed in this patient.