Identificación de variantes genéticas asociadas a hipercolesterolemia familiar en niños y adolescentes de la Región del Biobío, Chile / Identification of genetic variants associated with familial hypercholesterolemia in Chilean children and adolescents
Clinical and biochemical parameters were evaluated, and nine genes related to FH were sequenced namely LDLR, APOB, PCSK9, LDLRAP1, LIPA, APOE, ABCG5, ABCG8 and STAP1, in 55 children and adolescentsaged 1 to 18 years old, from non-consanguineous families.
Results:
Mutations associated with FH were found in 17 children and adolescents, corresponding to p.Asp47Asn, duplication of exons 13-15 and p.Ser326Cys of the LDLR gene; p.Glu204* and Ile268Met of the APOEgene. Thirteen patients were heterozygous, two homozygous, two compound heterozygous, and one double heterozygous.
Conclusions:
Children and adolescentscarryingmutations associated with FH were found by selective screening, which constitutes the first stage in the identification of genetic variants in our country.