Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy

Hum Mol Genet. 1993 Nov;2(11):1949-51. doi: 10.1093/hmg/2.11.1949.


A candidate gene for X-linked adrenoleukodystrophy (ALD) has been identified via positional cloning strategies. We now report messenger RNA expression in fibroblasts from 6 unrelated ALD patients. Four patients lacked the normal 4.2 kb transcript, three of them having deletions of the ALD gene. A fifth patient with a deletion of 1.6 kb had a smaller 4.0 kb transcript. The last patient had a normal sized transcript and a missense mutation at base 1258 leading to Glu-291-Lys substitution in a region of the candidate gene protein which is conserved in the 70 kD peroxisomal membrane protein. These results provide further evidence that this candidate gene is indeed the ALD gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP-Binding Cassette Transporters*
  • Adrenoleukodystrophy / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Blotting, Northern
  • Cloning, Molecular
  • Conserved Sequence
  • DNA Probes
  • Exons
  • Female
  • Fibroblasts / metabolism
  • Glutamates
  • Glutamic Acid
  • Humans
  • Lysine
  • Male
  • Membrane Proteins / genetics*
  • Microbodies / metabolism
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*
  • RNA, Messenger / biosynthesis
  • RNA, Messenger / genetics*
  • RNA, Messenger / metabolism
  • Sequence Deletion*
  • Transcription, Genetic
  • X Chromosome*


  • ABCD3 protein, human
  • ATP-Binding Cassette Transporters
  • DNA Probes
  • Glutamates
  • Membrane Proteins
  • RNA, Messenger
  • Glutamic Acid
  • Lysine