title: AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome.
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.
authors: Department of pediatric endocrinology, Children's medical center, Tehran university of medical sciences, Tehran, Iran.
authors: Parastoo
authors: P
authors: Rostami
authors: Maryam
authors: M
authors: Nakhaeimoghadam
authors: Faezeh-Moghimpour
authors: FM
authors: Bijani
authors: Arya
authors: A
authors: Sotoudeh
authors: Ali
authors: A
authors: Rabbani
authors: Pascale
authors: P
authors: Hilbert
authors: Nima
authors: N
authors: Rezaei
mesh_terms: D000217:Acyltransferases / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics; D052497:Lipodystrophy, Congenital Generalized / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D009154:Mutation
chemical_list: D000217:Acyltransferases; C018764:2-acylglycerophosphate acyltransferase