LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy

Hum Mutat. 2001 May;17(5):433. doi: 10.1002/humu.1122.


We screened a group of patients from southern Italy with clinically diagnosed familial hypercholesterolemia (FH) for mutations of the LDL receptor (LDLR) gene. RNA from each proband was analysed by RT-PCR followed by complete cDNA sequencing. Among 51 unrelated FH families we detected 17 mutations affecting the coding region of the LDLR gene. Five of these mutations, designated R395P, L783fsinsG, IVS15-3C>A, IVS3+5G>A, and 1698-1704delCACCCTAinsGCCCAAT (ITL545MPN), have not yet been reported in the literature. Interestingly, the novel IVS15-3C>A splicing mutation was detected in 20% of our unrelated FH families, suggesting an unusually high prevalence in our local population. Hum Mutat 17:433, 2001.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA Mutational Analysis
  • DNA, Complementary / genetics
  • Gene Frequency / genetics*
  • Humans
  • Hyperlipoproteinemia Type II / epidemiology
  • Hyperlipoproteinemia Type II / genetics*
  • Italy / epidemiology
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Polymorphism, Genetic / genetics
  • Prevalence
  • RNA Splice Sites / genetics
  • RNA, Messenger / genetics
  • Receptors, LDL / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction


  • DNA, Complementary
  • RNA Splice Sites
  • RNA, Messenger
  • Receptors, LDL