Two novel mutations of lecithin:cholesterol acyltransferase (LCAT) gene and the influence of APOE genotypes on clinical manifestations.
Two novel mutations of lecithin:cholesterol acyltransferase (LCAT) gene and the influence of APOE genotypes on clinical manifestations.
复制标题
DOI：
10.1093/ndtplus/sfr091
复制
发表时间：
2011-10
期刊：
影响因子：
--
通讯作者：
Makino H
中科院分区：
文献类型：
--
作者：
Katayama A;Wada J;Kataoka HU;Yamasaki H;Teshigawara S;Terami T;Inoue K;Kanzaki M;Murakami K;Nakatsuka A;Sugiyama H;Koide N;Bujo H;Makino H
家族性卵磷脂：胆固醇酰基转移酶缺乏症（FLD）是一种常染色体隐性遗传疾病，其特征为角膜混浊、溶血性贫血、低高密度脂蛋白胆固醇（HDL-C）和蛋白尿。两种新的卵磷脂：胆固醇酰基转移酶 (LCAT) 突变 [c.278 C>T (p.Pro69Leu)； c.950 T>C (p.Met293Thr)]分别在一名 27 岁男性和一名 30 岁女性中被鉴定。两名患者均出现角膜混浊、溶血性贫血、低密度脂蛋白胆固醇和HDL-C偏低以及蛋白尿。两种情况下均在肾小球基底膜中观察到具有空泡透明外观的脂质沉积。还研究了 APOE 基因型：第一个病例结果为 ε4/ε3，第二个病例结果为 ε2/ε2；然而，它们具有相似的表型，其特征是存在中密度脂蛋白（IDL）残余物且不存在脂蛋白-X。总之，我们的研究结果表明 APOE ϵ2/ϵ2 可能不是 FLD 患者出现 IDL 的主要决定基因。
Familial lecithin:cholesterol acyltransferase deficiency (FLD) is an autosomal recessive disorder characterized by corneal opacity, hemolytic anemia, low high-density lipoprotein cholesterol (HDL-C) and proteinuria. Two novel lecithin:cholesterol acyltransferase (LCAT) mutations[c.278 C>T (p.Pro69Leu); c.950 T>C (p.Met293Thr)] were identified in a 27-year-old man and in a 30-year-old woman, respectively. Both patients manifested corneal opacity, hemolytic anemia, low low-density lipoprotein cholesterol and HDL-C and proteinuria. Lipid deposits with vacuolar lucent appearance in glomerular basement membranes were observed in both cases. APOE genotype was also investigated: the first case results ϵ4/ϵ3, the second ϵ2/ϵ2; however, they shared a similar phenotype characterized by the presence of intermediate-density lipoproteins (IDL) remnant and the absence of lipoprotein-X. In conclusion, our findings suggest that APOE ϵ2/ϵ2 may not be the major determinant gene for the appearance of IDL in FLD patients.