Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance

Hum Genet. 2000 Feb;106(2):244-8. doi: 10.1007/s004390051034.


Stargardt disease is a recessively transmitted disease caused by mutations in the ABCR gene. Linkage disequilibrium has recently been reported between a polymorphism, 2828 A, and a common Western European founder mutation, 2588 C. Here, we confirm this linkage disequilibrium in a North American population. We also describe two complex alleles involving the 2828 A and 2588 C alterations and suggest a possible order of clinical severity of mutations identified in trans to the complex alleles. Finally, we report pseudodominance of Stargardt disease in a family with the 2588 C mutation, further supporting a high frequency of carriers for ABCR mutations in our population.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Alleles*
  • Female
  • Genes, Dominant*
  • Humans
  • Linkage Disequilibrium*
  • Macular Degeneration / genetics*
  • Male
  • Mutation*
  • Pedigree
  • Rod Cell Outer Segment / metabolism


  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters