Li Haoxian, Zhang Yanghui, Wei Xianda, Peng Ying, Yang Pu, Tan Hu, Chen Chen, Pan Qian, Liang Desheng, Wu Lingqian
State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, China.
State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, China; Hunan Jiahui Genetics Hospital, 110 Xiangya Road, Changsha, Hunan 410078, China.
Gene. 2015 Sep 15;569(2):313-7. doi: 10.1016/j.gene.2015.04.071. Epub 2015 Apr 29.
Familial hypercholesterolemia (FH MIM# 143890) is one of the most common autosomal inherited diseases. FH is characterized by elevated plasma levels of total cholesterol and low-density lipoprotein-cholesterol. Mutation in the LDLR gene, which encodes the LDL receptor protein, is responsible for most of the morbidity of FH. The incidence of heterozygous FH is about 1/500, whereas the incidence of homozygous FH is only 1/1,000,000 in Caucasian population. In this study, we report a homozygous LDLR mutation (c.298G>A) in a familial hypercholesterolemia patient, who exhibited intracranial cholesterol deposition, which is a rare addition to the common FH phenotypes. The proband's consanguineous parents have the same heterozygous mutation with elevated concentrations of LDL-C but no xanthoma.
家族性高胆固醇血症（FH，MIM编号：143890）是最常见的常染色体显性遗传病之一。FH的特征是血浆总胆固醇和低密度脂蛋白胆固醇水平升高。编码低密度脂蛋白受体蛋白的LDLR基因突变是导致FH发病的主要原因。在白种人群中，杂合子FH的发病率约为1/500，而纯合子FH的发病率仅为1/1,000,000。在本研究中，我们报告了1例家族性高胆固醇血症患者存在纯合子LDLR突变（c.298G>A），该患者出现了颅内胆固醇沉积，这是常见FH表型中罕见的一种情况。先证者的近亲父母具有相同的杂合子突变，低密度脂蛋白胆固醇浓度升高，但无黄瘤。
