Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

ABSTRACT: Familial hypercholesterolemia (FH) is caused by mutations in various genes, including the LDLR, APOB and PSCK9 genes; however, the spectrum of these mutations in Russian individuals has not been fully investigated. In the present study, mutation screening was performed on the LDLR gene and other FH-associated genes in patients with definite or possible FH, using next-generation sequencing. In total, 59 unrelated patients were recruited and sorted into two separate groups depending on their age: Adult (n=31; median age, 49; age range, 23-70) and children/adolescent (n=28; median age, 11; age range, 2-21). FH-associated variants were identified in 18 adults and 25 children, demonstrating mutation detection rates of 58 and 89% for the adult and children/adolescent

SUBMITTER: Miroshnikova VV 

PROVIDER: S-EPMC7694592 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature