Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil
| Autor: | Alessandro C. S. Ferreira, H. Pardini, Victor Cavalcanti Pardini, Abhimanyu Garg, Ana Paula Fernandes, Jocelyne Magré, Karina Braga Gomes |
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| Rok vydání: | 2004 |
| Předmět: |
Male
medicine.medical_specialty Lipodystrophy Endocrinology Diabetes and Metabolism Genetic counseling Clinical Biochemistry Pedigree chart Consanguinity Biology medicine.disease_cause Biochemistry Seipin Exon Endocrinology Internal medicine GTP-Binding Protein gamma Subunits parasitic diseases medicine Humans Gene Genetics Mutation Genetic heterogeneity Biochemistry (medical) Homozygote Exons 1-Acylglycerol-3-Phosphate O-Acyltransferase Pedigree Female Acyltransferases Brazil Gene Deletion Polymorphism Restriction Fragment Length |
| Zdroj: | The Journal of clinical endocrinology and metabolism. 89(1) |
| ISSN: | 0021-972X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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