A Novel Mutation in the Kringle IV Domain of LPA Gene Leading to Familial Cardiovascular Diseases
crossref(2020)
Abstract
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;
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