title: Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.
abstract: 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 cent -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.
authors.affiliation: National Research Laboratory for Cellular Biochemistry, Department of Biochemistry, College of Science, Yonsei University, Seoul 120-749, Korea.
authors.forename: Ji-Hyun
authors.initials: JH
authors.lastname: Kim
authors.forename: Ho-Kap
authors.initials: HK
authors.lastname: Choi
authors.forename: Haeyul
authors.initials: H
authors.lastname: Lee
authors.forename: Hyun Young
authors.initials: HY
authors.lastname: Park
authors.forename: Jeong-Ho
authors.initials: JH
authors.lastname: Kim
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Hyon J
authors.initials: HJ
authors.lastname: Kim
authors.forename: Seung-Taek
authors.initials: ST
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000818:Animals; D016466:CHO Cells; D002648:Child; D006224:Cricetinae; D004252:DNA Mutational Analysis; D005260:Female; D005347:Fibroblasts / Q000166:cytology / Q000502:physiology; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D007723:Korea; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics* / Q000378:metabolism
chemical_list: D011973:Receptors, LDL