Detection of Mutations in the ALD Gene (ABCD1) in Seven Italian Families: Description of Four Novel Mutations

Hum Mutat. 2000 Sep;16(3):271. doi: 10.1002/1098-1004(200009)16:3<271::AID-HUMU15>3.0.CO;2-D.

Abstract

The study describes the mutations causing adrenoleukodystrophy in seven Italian families. Four missense mutations leading to amino acid substitutions, two frameshift mutations leading to a premature termination signal, and a splicing mutation were identified. Mutations 2014C>T (P543L), 2053A>G (Q556A), 673-674insCC, and 1874+1G>A are described for the first time in this report. Mutations 1638C>T (R418W), 1588G>A(R401Q), and 1801-1802delAG are already known to be link to ALD.

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenoleukodystrophy / enzymology
  • Adrenoleukodystrophy / genetics*
  • Adult
  • Amino Acid Substitution / genetics
  • Child
  • Coenzyme A Ligases / genetics
  • Exons / genetics
  • Female
  • Frameshift Mutation / genetics
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Pedigree
  • Repressor Proteins*
  • Saccharomyces cerevisiae Proteins*
  • Sequence Analysis, DNA

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Membrane Proteins
  • Repressor Proteins
  • Saccharomyces cerevisiae Proteins
  • Coenzyme A Ligases
  • FAA2 protein, S cerevisiae
  • long-chain-fatty-acid-CoA ligase