E207K mutation of low-density lipoprotein receptor in familial hypercholesterolemia

Der Yan Tai*, Guey Jen Lee-Chen, Anli Tso, Hsing Ya Chang, Shy Ming Shei

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


We report a case of heterozygous familial hypercholesterolemia (HeFH) in a 36-year-ols 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 inherites 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 Mar


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

ASJC Scopus subject areas

  • General Medicine


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