The T705I mutation of the low density lipoprotein receptor gene (FH Paris-9) does not cause familial hypercholesterolemia

Hum Genet. 1997 Jan;99(1):106-7. doi: 10.1007/s004390050321.


Familial hypercholesterolemia (FH) is a genetic disease caused by mutations in the low-density lipoprotein receptor gene. Among the more than 200 mutations so far identified, the T705I substitution in exon 15, designated FH-Paris 9, has been previously described as an FH-causing mutation. During the course of denaturing gradient gel electrophoretic screening of exon 15 we have identified the T705I single-base substitution not only in an FH family but also in a control, normocholesterolemic population. Therefore, we conclude that FH-Paris 9 is a missense mutation not associated with FH.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Cholesterol / blood
  • Exons
  • Female
  • Genetic Carrier Screening
  • Homozygote
  • Humans
  • Hyperlipoproteinemia Type II / blood
  • Hyperlipoproteinemia Type II / genetics*
  • Male
  • Paris
  • Pedigree
  • Point Mutation*
  • Polymorphism, Genetic*
  • Receptors, LDL / genetics*
  • Reference Values


  • Receptors, LDL
  • Cholesterol