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Mutations in the Seipin and AGPAT2 Genes Clustering in Consanguineous Families with Berardinelli-Seip Congenital Lipodystrophy from Two Separate Geographical Regions of Brazil

Department of Human Genetics (K.B.G., A.C.S.F., H.P., V.C.P.), Instituto de Patologia Clinica Hermes Pardini, Belo Horizonte, Minas Gerais, 30140-070 Brazil; Faculdade de Farmácia (K.B.G., A.P.F.), Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, 30180-112 Brazil; Division of Nutrition and Metabolic Diseases, Department of Internal Medicine (A.G.), University of Texas Southwestern Medical Center, Dallas, Texas 75390-9052; and Institut National de la Santé et de la Recherche Médicale Unité 402 (J.M.), Saint-Antoine Faculty of Medicine, University of Pierre and Marie Curie, Paris, 75012 France

Address all correspondence and requests for reprints to: Victor Cavalcanti Pardini, M.D., Department of Human Genetics, Instituto de Patologia Clinica Hermes Pardini, Rua Aimorés, 33, Funcionários, Belo Horizonte, Minas Gerais, 30140-070 Brazil. E-mail: vpardini{at}labhpardini.com.br.

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.

This work was supported in part by National Institutes of Health Grant R01-DK54387 (to A.G.) and by the Association de Langue Française pour l’Etude du Diabète et des Maladies Métaboliques and Ministère de la Recherche et de la Technologie.

Abbreviations: AGPAT2, 1-Acylglycerol phosphate acyltransferase 2; BSCL, Berardinelli-Seip congenital lipodystrophy.