title: Mutation detection in Chinese patients with familial hypercholesterolemia.
abstract: BACKGROUND
  Familial hypercholesterolemia (FH) is the first molecularly and clinically characterized genetic disease of lipid metabolism. It is an autosomal dominant disorder with significantly elevated levels of total cholesterol and low density of lipoprotein cholesterol in serum, which would lead to extensive xanthomas and premature coronary heart disease. Mutations inlow density lipoprotein receptor(LDLR),proprotein convertase subtilisin/kexin type 9andApo lipoprotein B-100(APOB) have been identified to be the underlying cause of this disease.
  
  
  METHODS
  Genetic testing and reports of the mutations in the Chinese population are still limited. In this study, 11 unrelated Chinese FH families were enrolled to detect the candidate gene variants by DNA direct sequencing.
  
  
  CONCLUSIONS
  We identified 12 mutations (11 inLDLRand one inAPOB) in ten FH families. Three novelLDLRmutations (c.516C>A/p.D172E, c.1720C>A/p.R574S and c.760C>T/p.Q254X) were identified and co-segregated with the affected individuals in the families. Our discoveries not only further supports the significant role of LDLR in FH, but also expands the spectrum ofLDLRmutations. These new insights will contribute to the genetic diagnosis and counseling of FH patients.
authors.affiliation: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410013 China.
authors.forename: Ran
authors.initials: R
authors.lastname: Du
authors.affiliation: 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.affiliation: Department of Cardiology, The Second Xiangya Hospital of Central South University, Changsha, 410011 China.
authors.forename: Min-Jie
authors.initials: MJ
authors.lastname: Lin
authors.affiliation: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410013 China.
authors.forename: Zhi-Jian
authors.initials: ZJ
authors.lastname: He
authors.affiliation: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410013 China.
authors.forename: Hao
authors.initials: H
authors.lastname: Huang
authors.affiliation: Department of Cardiology, The Second Xiangya Hospital of Central South University, Changsha, 410011 China.
authors.forename: Ya-Qin
authors.initials: YQ
authors.lastname: Chen
authors.affiliation: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410013 China.
authors.forename: Jing-Jing
authors.initials: JJ
authors.lastname: Li
authors.affiliation: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410013 China.
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.affiliation: Department of Cardiology, The Second Xiangya Hospital of Central South University, Changsha, 410011 China.
authors.forename: Shui-Ping
authors.initials: SP
authors.lastname: Zhao
authors.affiliation: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410013 China ; Department of Cardiology, The Second Xiangya Hospital of Central South University, Changsha, 410011 China.
authors.forename: Rong
authors.initials: R
authors.lastname: Xiang
keywords: Familial hypercholesterolemia; LDLR; Mutation