PubMed:25936346 JSONTXT

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"25936346-0#70#74#gene3949","span":{"begin":70,"end":74},"obj":"gene3949"},{"id":"25936346-0#80#109#diseaseC0020445","span":{"begin":80,"end":109},"obj":"diseaseC0020445"},{"id":"25936346-0#80#109#diseaseC0745103","span":{"begin":80,"end":109},"obj":"diseaseC0745103"}],"relations":[{"id":"70#74#gene394980#109#diseaseC0020445","pred":"associated_with","subj":"25936346-0#70#74#gene3949","obj":"25936346-0#80#109#diseaseC0020445"},{"id":"70#74#gene394980#109#diseaseC0745103","pred":"associated_with","subj":"25936346-0#70#74#gene3949","obj":"25936346-0#80#109#diseaseC0745103"}],"text":"Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patient.\nFamilial 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\u003eA) 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."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":128,"end":148},"obj":"HP:0003124"},{"id":"TI1","span":{"begin":89,"end":109},"obj":"HP:0003124"},{"id":"AB2","span":{"begin":655,"end":675},"obj":"HP:0003124"}],"text":"Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patient.\nFamilial 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\u003eA) 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."}