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Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing
- Source :
- PLoS ONE, Vol 10, Iss 5, p e0126706 (2015), PLoS ONE, PLOS ONE(10): 5
- Publication Year :
- 2015
- Publisher :
- Public Library of Science (PLoS), 2015.
-
Abstract
- Familial hypercholesterolemia (FH) is a genetic disorder with an increased risk of early-onset coronary artery disease. Although some clinically diagnosed FH cases are caused by mutations in LDLR, APOB, or PCSK9, mutation detection rates and profiles can vary across ethnic groups. In this study, we aimed to provide insight into the spectrum of FH-causing mutations in Koreans. Among 136 patients referred for FH, 69 who met Simon Broome criteria with definite family history were enrolled. By whole-exome sequencing (WES) analysis, we confirmed that the 3 known FH-related genes accounted for genetic causes in 23 patients (33.3%). A substantial portion of the mutations (19 of 23 patients, 82.6%) resulted from 17 mutations and 2 copy number deletions in LDLR gene. Two mutations each in the APOB and PCSK9 genes were verified. Of these anomalies, two frameshift deletions in LDLR and one mutation in PCSK9 were identified as novel causative mutations. In particular, one novel mutation and copy number deletion were validated by co-segregation in their relatives. This study confirmed the utility of genetic diagnosis of FH through WES.
- Subjects :
- Adult
Male
Apolipoprotein B
Hypercholesterolemia
lcsh:Medicine
Familial hypercholesterolemia
Bioinformatics
medicine.disease_cause
Frameshift mutation
Asian People
medicine
Humans
Genetic Testing
lcsh:Science
Exome sequencing
Genetic testing
Aged
Apolipoproteins B
Genetics
Mutation
Multidisciplinary
biology
medicine.diagnostic_test
Serine Endopeptidases
lcsh:R
Genetic disorder
Middle Aged
medicine.disease
Human genetics
Receptors, LDL
biology.protein
Female
lcsh:Q
Proprotein Convertases
Proprotein Convertase 9
Research Article
Subjects
Details
- Language :
- English
- ISSN :
- 19326203
- Volume :
- 10
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- PLoS ONE
- Accession number :
- edsair.doi.dedup.....64d2e9e17bbb362f3352c3db8bd7d89c