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
Rev. méd. Chile
;
149(9): 1267-1274, sept. 2021. tab, graf, ilus
Artículo
en Español
| LILACS
| ID: biblio-1389597
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 andMethods:
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.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Proproteína Convertasa 9
/
Hiperlipoproteinemia Tipo II
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
/
Factores de riesgo
Límite:
Adolescente
/
Niño
/
Child, preschool
/
Humanos
/
Lactante
País/Región como asunto:
America del Sur
/
Chile
Idioma:
Español
Revista:
Rev. méd. Chile
Asunto de la revista:
Medicina
Año:
2021
Tipo del documento:
Artículo
País de afiliación:
Brasil
/
Chile
Institución/País de afiliación:
Centro Avanzado de Medicina Metabólica y Nutrición/CL
/
Regional Guillermo Grant Benavente/CL
/
Universidad de Concepción/CL
/
University of São Paulo Medical School Hospital/BR
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