title: Novel mutations of low-density lipoprotein receptor gene in China patients with familial hypercholesterolemia.
abstract: Familial hypercholesterolaemia (FH) is an autosomal dominant genetic disorder, associated with elevated level of serum low-density lipoprotein-cholesterol (LDL-C), which can lead to premature cardiovascular disease (CVD). Mutations in low density lipoprotein receptor (LDLR) and proprotein convertase subtilisin/kexin type 9 (PCSK9) have been identified to be the underlying cause of this disease. Genetic research of FH has already been extensively studied all over the world. However, reports of FH mutations in the Chinese population are still limited. In this paper, 20 unrelated FH families were enrolled to detect the candidate gene variants in Chinese FH population by DNA direct sequencing. We identified 12 LDLR variants in 13 FH probands. Importantly, we first reported two unique mutations (c.2000_2000 delG/p.C667LfsX6 and c.605T>C/p.F202S) in LDLR gene. Our discoveries expand the spectrum of LDLR mutations and contribute to the genetic diagnosis and counseling for FH patients.
authors.affiliation: Department of Cell Biology, The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410013, China.
authors.forename: Liang-liang
authors.initials: LL
authors.lastname: Fan
authors.forename: Min-jie
authors.initials: MJ
authors.lastname: Lin
authors.forename: Ya-qin
authors.initials: YQ
authors.lastname: Chen
authors.forename: Hao
authors.initials: H
authors.lastname: Huang
authors.forename: Dao-quan
authors.initials: DQ
authors.lastname: Peng
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Shui-ping
authors.initials: SP
authors.lastname: Zhao
authors.forename: Rong
authors.initials: R
authors.lastname: Xiang
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics*; D055815:Young Adult
chemical_list: C573412:LDLR protein, human; D011973:Receptors, LDL