Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family

Clin Genet. 1994 Jan;45(1):48-51. doi: 10.1111/j.1399-0004.1994.tb03990.x.


An intragenic elastin Hinf I polymorphism has been used to study the inheritance of elastin alleles in a family considered to show recessive inheritance of pseudoxanthoma elasticum (PXE). The marker has proved informative, excluding the elastin gene as a cause of PXE in this family. In addition, whole genomic human elastin clones were used in Southern analysis to screen the family for gross elastin gene rearrangements, but none were detected.

Publication types

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

MeSH terms

  • Adolescent
  • Alleles
  • Elastin / genetics*
  • Family
  • Female
  • Genetic Markers
  • Humans
  • Mutation*
  • Pedigree
  • Polymorphism, Genetic
  • Pseudoxanthoma Elasticum / genetics*


  • Genetic Markers
  • Elastin