Gomes Karina Braga, Fernandes Ana Paula, Ferreira Alessandro Clayton Souza, Pardini Hermes, Garg Abhimanyu, Magré Jocelyne, Pardini Victor Cavalcanti
Department of Human Genetics, Instituto de Patologia Clinica Hermes Pardini, Belo Horizonte, Minas Gerais, 30140-070 Brazil.
J Clin Endocrinol Metab. 2004 Jan;89(1):357-61. doi: 10.1210/jc.2003-030415.
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.
贝拉尔迪内利 - 塞普先天性脂肪营养不良（BSCL）的特征是先天性几乎完全缺乏脂肪，并易患糖尿病。在本研究中，我们调查了来自巴西东北部和东南部两个不同地理区域的17个近亲家系的32名患有BSCL的受试者中Seipin和1 - 酰基甘油磷酸酰基转移酶2（AGPAT2）基因的突变情况。在居住于东北部地区的15个家庭的22名BSCL受试者中，除一人外，其余均被发现Seipin基因存在纯合的669insA突变。相比之下，居住于东南部地区的两个家庭的所有10名BSCL受试者均被发现AGPAT2基因存在纯合的1036 bp缺失，包括第3和第4外显子。这些结果支持巴西BSCL患者存在遗传异质性。我们分别在东北部和东南部地区家系的Seipin和AGPAT2基因中发现单一突变，这将有助于对来自巴西这些大型家系的受试者进行遗传咨询。
