193 288

Cited 7 times in

Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing

 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 
 PLOS ONE, Vol.10(5) : e0126706, 2015 
Journal Title
Issue Date
Adult ; Aged ; Apolipoproteins B/genetics ; Asian Continental Ancestry Group ; Female ; Genetic Testing/methods* ; Humans ; Hypercholesterolemia/diagnosis* ; Hypercholesterolemia/genetics* ; Male ; Middle Aged ; Mutation ; Proprotein Convertase 9 ; Proprotein Convertases/genetics ; Receptors, LDL/genetics ; Serine Endopeptidases/genetics
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.
Files in This Item:
T201501390.pdf Download
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
Park, Sung Ha(박성하) ORCID logo https://orcid.org/0000-0001-5362-478X
Lee, Min Goo(이민구) ORCID logo https://orcid.org/0000-0001-7436-012X
Lee, Byoung Kwon(이병권) ORCID logo https://orcid.org/0000-0001-9259-2776
Lee, Sang Hak(이상학) ORCID logo https://orcid.org/0000-0002-4535-3745
Lee, Ji Hyun(이지현)
Jang, Yang Soo(장양수) ORCID logo https://orcid.org/0000-0002-2169-3112
Han, Soo Min(한수민)
사서에게 알리기


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.