Two Novel Missense Mutations Causing Adrenoleukodystrophy in Italian Patients

Mol Cell Probes. 1999 Jun;13(3):179-82. doi: 10.1006/mcpr.1999.0232.

Abstract

The authors present two new missense mutations in exon 1 of the adrenoleukodystrophy (ALD) gene. The first, a C813T transition, results in the substitution Pro143 Ser in the third putative transmembrane domain of the adrenoleukodystrophy protein (ALDP) in an adult onset case. The second, a de novo C709T transition, results in a substitution Ser 108 Leu between the second and the third putative transmembrane segments, in a childhood case.

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 / genetics*
  • Adult
  • Child
  • Female
  • Humans
  • Italy
  • Leucine / genetics
  • Male
  • Membrane Proteins / genetics*
  • Mutation, Missense*
  • Pedigree
  • Proline / genetics
  • Serine / genetics

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Membrane Proteins
  • Serine
  • Proline
  • Leucine