Novel and Recurrent Mutations of the LDL Receptor Gene in Korean Patients with Familial HypercholesterolemiaNovel and Recurrent Mutations of the LDL Receptor Gene in Korean Patients with Familial Hypercholesterolemia
- Other Titles
- Novel and Recurrent Mutations of the LDL Receptor Gene in Korean Patients with Familial Hypercholesterolemia
- Authors
- Ji-Hyun Kim; Ho-Kap Choi; Haeyul Lee; Hyun Young Park; Jeong-Ho Kim; Jong-Won Kim; Hyon J. Kim; 이승택
- Issue Date
- Aug-2004
- Publisher
- 한국분자세포생물학회
- Keywords
- Familial Cholesterolemia; Korean Patients; LDL Receptor; Novel Mutations; Recurrent Mutations.; Familial Cholesterolemia; Korean Patients; LDL Receptor; Novel Mutations; Recurrent Mutations.
- Citation
- Molecules and Cells, v.18, no.1, pp 63 - 70
- Pages
- 8
- Journal Title
- Molecules and Cells
- Volume
- 18
- Number
- 1
- Start Page
- 63
- End Page
- 70
- URI
- https://scholarworks.sookmyung.ac.kr/handle/2020.sw.sookmyung/51953
- ISSN
- 1016-8478
0219-1032
- Abstract
- We have identified 16 different mutations of the lowdensity
lipoprotein receptor (LDLR) gene in 25 unrelated
Korean patients with heterozygous familial hypercholesterolemia
(FH), including five novel mutations,
C83Y, 661del17, 1705insCTAG, C675X, and 941-
1G>A. The 1705insCTAG mutation in which the four
3′-terminal nucleotides of exon 11 are duplicated was
found to prevent splicing of exon 11 and would therefore
generate a truncated polypeptide. The in-frame
36-bp deletion (1591del36) in exon 11, which had been
reported only in one Korean FH patient, was also
found. We showed that this change affects transport of
the LDL receptor from the endoplasmic reticulum to
the cell surface. In addition, we found 8 mutations (-
136C>T, E119K, E207K, E207X, F382L, R574Q, 1846-
1G>A, and P664L) that had been described in other
ethnic groups but not in Koreans, and 2 mutations
(R94H and D200N) that had been described in Koreans
as well as other ethnic groups. 5 mutations
(1591del36, E119K, E207X, E207K, and P664L) were
found more than once in the Korean FH samples.
Identification of the novel and recurring LDLR mutations
in Korean FH patients should facilitate prenatal
and early diagnosis in families at high risk of FH.
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