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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 in  low density lipoprotein receptor  ( LDLR ),  proprotein convertase subtilisin/kexin type 9  and  Apo 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.    Results and conclusion  We identified 12 mutations (11 in  LDLR  and one in  APOB ) in ten FH families. Three novel  LDLR  mutations (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 of  LDLR  mutations. These new insights will contribute to the genetic diagnosis and counseling of FH patients.

Mutation detection in Chinese patients with familial hypercholesterolemia