A Novel Mutation in the Kringle IV Domain of LPA Gene Leading to Familial Cardiovascular Diseases

Abstract Background This study aims to investigate the clinical characterization and causative genetic defect of a four-generation Chinese Han family with cardiovascular diseases. Methods The combined use of next-generation sequencing and qPCR technique was performed to investigate genetic pathology of familial cardiovascular diseases. Results The clinical manifestations of the family members include coronaty artery disease, early-onset hypertension, lipoma, cerebral infarction and even unexplained sudden death, and a novel heterozygous deletion of 3-16 exon of LPA gene was identified to be causative for the symptoms in the family. Conclusions A novel deletion in the LPA gene was identified in a Chinese family associated with elevated Lp(a) levels and cardiovascular diseases, which expands the spectrum of the LPA mutation and its associated phenotypes. Keywords Copy number variation; Cardiovascular diseases；Kringle IV; Lipoprotein(a); LPA;