title: Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil.
abstract: Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by a near total congenital absence of fat and predisposition to develop diabetes mellitus. In this study, we investigated the presence of mutations in the Seipin and 1-acylglycerol phosphate acyltransferase 2 (AGPAT2) genes in 32 affected subjects with BSCL from 17 consanguineous pedigrees living in two separate geographical regions, the northeastern and southeastern regions, of Brazil. All, except one, of the 22 BSCL subjects from 15 families living in the northeastern region were found to have a homozygous 669insA mutation in the Seipin gene. In contrast, all 10 BSCL subjects from two families living in the southeastern region were found to a have a homozygous 1036-bp deletion including exons 3 and 4 of AGPAT2. These results support genetic heterogeneity among BSCL patients in Brazil. Our finding of a single mutation in the Seipin and AGPAT2 genes in the pedigrees from the northeastern and southeastern regions, respectively, will be useful in genetic counseling of subjects from these large pedigrees from Brazil.
authors.affiliation: Department of Human Genetics, Instituto de Patologia Clinica Hermes Pardini, Belo Horizonte, Minas Gerais, 30140-070 Brazil.
authors.forename: Karina Braga
authors.initials: KB
authors.lastname: Gomes
authors.forename: Ana Paula
authors.initials: AP
authors.lastname: Fernandes
authors.forename: Alessandro Clayton Souza
authors.initials: AC
authors.lastname: Ferreira
authors.forename: Hermes
authors.initials: H
authors.lastname: Pardini
authors.forename: Abhimanyu
authors.initials: A
authors.lastname: Garg
authors.forename: Jocelyne
authors.initials: J
authors.lastname: Magré
authors.forename: Victor Cavalcanti
authors.initials: VC
authors.lastname: Pardini
mesh_terms: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; D000217:Acyltransferases / Q000235:genetics*; D001938:Brazil; D003241:Consanguinity; D005091:Exons / Q000235:genetics; D005260:Female; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics*; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D008060:Lipodystrophy / Q000151:congenital* / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
chemical_list: C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits; D000217:Acyltransferases; D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase