A Family With Combined Mutations of the Hemophilia A and X-linked Adrenoleukodystrophy Genes

Neurogenetics. 2008 Jul;9(3):215-8. doi: 10.1007/s10048-008-0132-6. Epub 2008 May 15.

Abstract

X-linked adrenoleukodystrophy and hemophilia A are two distinct, potentially devastating, genetic diseases whose corresponding genes are located in close proximity on the X chromosome. Here we report a family with members affected with both conditions, only the second such family ever reported. Although a structural genomic rearrangement involving both genes was initially predicted to underlie this extremely rare phenotype, genotyping revealed the unlikely occurrence of two individual point mutations. Given the impact of this result on the heritability of the two disorders within the family, this case illustrates the significance of performing detailed molecular analysis in patients with multiple genetic disorders.

Publication types

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

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenoleukodystrophy / complications*
  • Adrenoleukodystrophy / genetics*
  • Chromosomes, Human, X / genetics
  • Factor VIII / genetics*
  • Female
  • Genes, X-Linked
  • Hemophilia A / complications*
  • Hemophilia A / genetics*
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Point Mutation*
  • Young Adult

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Factor VIII