Haghighi Amirreza, Razzaghy-Azar Maryam, Talea Ali, Sadeghian Mahnaz, Ellard Sian, Haghighi Alireza
The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Eur J Med Genet. 2012 Nov;55(11):620-4. doi: 10.1016/j.ejmg.2012.07.011. Epub 2012 Aug 1.
Congenital generalized lipodystrophy (CGL) is an autosomal recessive disease characterized by the generalized scant of adipose tissue. CGL type 1 is caused by mutations in gene encoding 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2). A clinical and molecular genetic investigation was performed in affected and unaffected members of two families with CGL type 1. The AGPAT2 coding region was sequenced in index cases of the two families. The presence of the identified mutations in relevant parents was tested. We identified a novel nonsense mutation (c.685G>T, p.Glu229*) and a missense substitution (c.514G>A, p.Glu172Lys). The unaffected parents in both families were heterozygous carrier of the relevant mutation. The results expand genotype-phenotype spectrum in CGL1 and will have applications in prenatal and early diagnosis of the disease. This is the first report of Persian families identified with AGPAT2 mutations.
先天性全身脂肪营养不良（CGL）是一种常染色体隐性疾病，其特征为全身脂肪组织缺乏。1型CGL由编码1-酰基甘油-3-磷酸O-酰基转移酶-2（AGPAT2）的基因突变引起。对两个1型CGL家庭的患病和未患病成员进行了临床和分子遗传学调查。对两个家庭的先证者的AGPAT2编码区进行了测序。检测了相关父母中已鉴定突变的存在情况。我们鉴定出一个新的无义突变（c.685G>T，p.Glu229*）和一个错义替代（c.514G>A，p.Glu172Lys）。两个家庭中未患病的父母均为相关突变的杂合携带者。这些结果扩展了CGL1的基因型-表型谱，并将应用于该疾病的产前和早期诊断。这是首次报道在波斯家庭中鉴定出AGPAT2突变。
