A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia

Hum Genet. 1997 Jul;100(1):101-3. doi: 10.1007/s004390050473.


Two novel mutations Q363X and D365E were identified in the low-density lipoprotein receptor gene in a Cypriot patient with heterozygous familial hypercholesterolemia. Restriction enzyme analysis of the index case and seven of her family members, by using AvaII and PvuII respectively, demonstrated that the two exon 8 mutations are transmitted in cis within the family. The disease phenotype is probably caused by the stop-363 mutation; this would result in a truncated protein that would probably be rapidly degraded in the extracellular space.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Child
  • Child, Preschool
  • Cyprus
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • Exons
  • Female
  • Haplotypes
  • Heterozygote
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Male
  • Pedigree
  • Point Mutation*
  • Receptors, LDL / genetics*


  • Receptors, LDL
  • CAGCTG-specific type II deoxyribonucleases
  • Deoxyribonucleases, Type II Site-Specific
  • GGWCC-specific type II deoxyribonucleases