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

Karina Braga Gomes, Ana Paula Fernandes, Alessandro Clayton Souza Ferreira, Hermes Pardini, Abhimanyu Garg, Jocelyne Magré, Victor Cavalcanti Pardini

Research output: Contribution to journalArticle

22 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)357-361
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Volume89
Issue number1
DOIs
StatePublished - Jan 2004

Fingerprint

Congenital Generalized Lipodystrophy
Geographical regions
Glycerides
Acyltransferases
Brazil
Cluster Analysis
Genes
Phosphates
1-Acylglycerol-3-Phosphate O-Acyltransferase
Pedigree
Mutation
Medical problems
Exons
Fats
Genetic Heterogeneity
Genetic Counseling
Diabetes Mellitus

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

Mutations in the Seipin and AGPAT2 Genes Clustering in Consanguineous Families with Berardinelli-Seip Congenital Lipodystrophy from Two Separate Geographical Regions of Brazil. / Gomes, Karina Braga; Fernandes, Ana Paula; Souza Ferreira, Alessandro Clayton; Pardini, Hermes; Garg, Abhimanyu; Magré, Jocelyne; Pardini, Victor Cavalcanti.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 89, No. 1, 01.2004, p. 357-361.

Research output: Contribution to journalArticle

Gomes, Karina Braga ; Fernandes, Ana Paula ; Souza Ferreira, Alessandro Clayton ; Pardini, Hermes ; Garg, Abhimanyu ; Magré, Jocelyne ; Pardini, Victor Cavalcanti. / Mutations in the Seipin and AGPAT2 Genes Clustering in Consanguineous Families with Berardinelli-Seip Congenital Lipodystrophy from Two Separate Geographical Regions of Brazil. In: Journal of Clinical Endocrinology and Metabolism. 2004 ; Vol. 89, No. 1. pp. 357-361.
@article{d89e0cb59ad84cbfae31a1a0f5d6af8c,
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.",
author = "Gomes, {Karina Braga} and Fernandes, {Ana Paula} and {Souza Ferreira}, {Alessandro Clayton} and Hermes Pardini and Abhimanyu Garg and Jocelyne Magr{\'e} and Pardini, {Victor Cavalcanti}",
year = "2004",
month = "1",
doi = "10.1210/jc.2003-030415",
language = "English (US)",
volume = "89",
pages = "357--361",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "The Endocrine Society",
number = "1",

}

TY - JOUR

T1 - Mutations in the Seipin and AGPAT2 Genes Clustering in Consanguineous Families with Berardinelli-Seip Congenital Lipodystrophy from Two Separate Geographical Regions of Brazil

AU - Gomes, Karina Braga

AU - Fernandes, Ana Paula

AU - Souza Ferreira, Alessandro Clayton

AU - Pardini, Hermes

AU - Garg, Abhimanyu

AU - Magré, Jocelyne

AU - Pardini, Victor Cavalcanti

PY - 2004/1

Y1 - 2004/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0842334498&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0842334498&partnerID=8YFLogxK

U2 - 10.1210/jc.2003-030415

DO - 10.1210/jc.2003-030415

M3 - Article

C2 - 14715872

AN - SCOPUS:0842334498

VL - 89

SP - 357

EP - 361

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

IS - 1

ER -