Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patient.
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.
State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, China.
Haoxian
H
Li
State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, China.
Yanghui
Y
Zhang
State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, China.
Xianda
X
Wei
State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, China.
Ying
Y
Peng
State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, China.
Pu
P
Yang
State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, China.
Hu
H
Tan
State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, China.
Chen
C
Chen
State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, China.
Qian
Q
Pan
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. Electronic address: liangdesheng@sklmg.edu.cn.
Desheng
D
Liang
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. Electronic address: wulingqian@sklmg.edu.cn.
Lingqian
L
Wu
D000595:Amino Acid Sequence; D000818:Animals; D044466:Asian People / Q000235:genetics; D001921:Brain / Q000473:pathology; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics* / Q000473:pathology; D008074:Lipoproteins / Q000097:blood; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D011973:Receptors, LDL / Q000737:chemistry / Q000235:genetics*; D016415:Sequence Alignment; D055815:Young Adult
C573412:LDLR protein, human; D008074:Lipoproteins; D011973:Receptors, LDL
Cholesterol deposition; Familial hypercholesterolemia; Homozygous mutation; LDLR; Phenotype