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Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing

Authors
 Soo Min Han  ;  Byungjin Hwang  ;  Tae-gun Park  ;  Do-Il Kim  ;  Moo-Yong Rhee  ;  Byoung-Kwon Lee  ;  Young Keun Ahn  ;  Byung Ryul Cho  ;  Jeongtaek Woo  ;  Seung-Ho Hur  ;  Jin-Ok Jeong  ;  Sungha Park  ;  Yangsoo Jang  ;  Min Goo Lee  ;  Duhee Bang  ;  Ji Hyun Lee  ;  Sang-Hak Lee 
Citation
 PLoS One, Vol.10(5) : e0126706, 2015 
Journal Title
 PLoS One 
ISSN
 1932-6203 
Issue Date
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.
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DOI
10.1371/journal.pone.0126706
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
박성하(Park, Sung Ha) ORCID logo https://orcid.org/0000-0001-5362-478X
이민구(Lee, Min Goo) ORCID logo https://orcid.org/0000-0001-7436-012X
이병권(Lee, Byoung Kwon) ORCID logo https://orcid.org/0000-0001-9259-2776
이상학(Lee, Sang Hak) ORCID logo https://orcid.org/0000-0002-4535-3745
이지현(Lee, Ji Hyun)
장양수(Jang, Yang Soo) ORCID logo https://orcid.org/0000-0002-2169-3112
한수민(Han, Soo Min)
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/140099
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