E207k Mutation of Low Receptor in Familial Hypercholesterolemia

戴 德炎, 陳李 桂楨(Guey-Jen Lee-Chen), 左 安莉(Anli Tso), 張 興亞(Hsing-Ya Chang), 謝 士明(Shy-Ming Shei)

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We report a case of heterozygous familial hypercholesterolemia (HeFH) in a 36-year-old man with premature coronary artery disease (CAD). Hypercholesterolemia was found in family members including his mother, wife and all 3 of his children (2 boys aged 6 and 3 years, 1 girl aged 4 years). Genetic analysis revealed a GA substitution at nucleotide 682, resulting in Glu207 to Lys (E207K) mutation of the ligand-binding domain of the low-density lipoprotein receptor (LDLR) of all the family members with hypercholesterolemia except for the proband’s wife. Genetic study showed that this mutation was inherited from the proband’s mother then transmitted to all 3 children. Detection of this mutation identifies the cause of hypercholesterolemia and allows appropriate early treatment to prevent premature CAD.
Original languageEnglish
Pages (from-to)225-229
Number of pages5
JournalJournal of the Formosan Medical Association
Issue number3
Publication statusPublished - 2004
Externally publishedYes


  • Apolipoproteins B
  • Case report
  • Cytogenetic analysis
  • Hypercholesterolemia, familial
  • Receptors, LDL

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    戴德炎, 陳李桂楨(Guey-Jen L-C, 左安莉(Anli T, 張興亞(Hsing-Ya C, & 謝士明(Shy-Ming S (2004). E207k Mutation of Low Receptor in Familial Hypercholesterolemia. Journal of the Formosan Medical Association, 103(3), 225-229. https://doi.org/10.29828/JFMA.200403.0009