Identification of a Two Base Pair Deletion in Five Unrelated Families With Adrenoleukodystrophy: A Possible Hot Spot for Mutations

Biochem Biophys Res Commun. 1994 Jul 29;202(2):647-53. doi: 10.1006/bbrc.1994.1979.

Abstract

The gene for X-linked adrenoleukodystrophy (ALD) was recently identified. Intragenic deletions of several kilobases were found in about 7% of patients. Point mutations, expected to be very heterogeneous, were identified so far in only two patients. We report the identification of a two base pair deletion at position 1801-1802 of the ALD cDNA, located within the fifth exon of the ALD gene, which precedes the two consensus motives for ATP-binding. This microdeletion was found in five out of 40 unrelated ALD kindreds, indicating that this position is a hot spot for mutations. The mutation was observed both in patients with childhood cerebral ALD (CCALD) and in patients with adrenomyeloneuropathy (AMN).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters*
  • Adenosine Triphosphate / metabolism
  • Adrenoleukodystrophy / genetics*
  • Base Composition
  • Base Sequence
  • Binding Sites
  • Carrier Proteins / genetics*
  • Chromosome Deletion*
  • Consensus Sequence
  • DNA, Complementary / chemistry
  • Female
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Point Mutation
  • Polymerase Chain Reaction

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Carrier Proteins
  • DNA, Complementary
  • Membrane Proteins
  • Adenosine Triphosphate

Associated data

  • GENBANK/Z21876