Identificación de variantes genéticas asociadas a hipercolesterolemia familiar en niños y adolescentes de la Región del Biobío, Chile

Andrea Sánchez; Paulina Bustos; Paula Honorato; Katia Sáez; Cinthia Elim-Jannes; Natalia Barriga; Guillermo Ibieta; Luis Pérez; Rodrigo Alonso; Claudia Radojkovic; Sylvia Asenjo

Abstract

" Background: Familial hypercholesterolemia (FH) is commonly associated with mutations in-LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9). Aim: To identify genetic variants associated with FH in a population of children and adolescents with hypercholesterolemia or a family history of-demonstrated early CVD. Material and Methods: 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 adolescents aged 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 APOE gene. Thirteen patients were heterozygous, two homozygous, two compound heterozygous, and one double heterozygous. Conclusions: Children and adolescents carrying mutations associated with FH were found by selective screening, which constitutes the first stage in the identification of genetic variants in our country."

Más información

Título según WOS: Identification of genetic variants associated with familial hypercholesterolemia in Chilean children and adolescents
Título según SCIELO: Identificación de variantes genéticas asociadas a hipercolesterolemia familiar en niños y adolescentes de la Región del Biobío, Chile
Título de la Revista: REVISTA MEDICA DE CHILE
Volumen: 149
Número: 9
Editorial: Sociedad Médica de Santiago
Fecha de publicación: 2021
Página de inicio: 1267
Página final: 1274
Idioma: es
DOI:

10.4067/S0034-98872021000901267

Notas: ISI, SCIELO