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
Article
in Spanish
| 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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Proprotein Convertase 9
/
Hyperlipoproteinemia Type II
Type of study:
Diagnostic study
/
Prognostic study
/
Risk factors
Limits:
Adolescent
/
Child
/
Child, preschool
/
Humans
/
Infant
Country/Region as subject:
South America
/
Chile
Language:
Spanish
Journal:
Rev. méd. Chile
Journal subject:
Medicine
Year:
2021
Type:
Article
Affiliation country:
Brazil
/
Chile
Institution/Affiliation country:
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
Similar
MEDLINE
...
LILACS
LIS