Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia

Ji Hyun Kim, Ho Kap Choi, Haeyul Lee, Hyun Young Park, Jeong Ho Kim, Jong Won Kim, Hyon J. Kim, Seung Taek Lee

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14 Citations (Scopus)


We have identified 16 different mutations of the low-density 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-IG>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.

Original languageEnglish
Pages (from-to)63-70
Number of pages8
JournalMolecules and cells
Issue number1
Publication statusPublished - 2004 Aug 31

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Cell Biology


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