Two Novel Frameshift Mutations in the Adrenoleukodystrophy Gene in Italian Patients

J Neurol Sci. 1999 May 1;165(1):62-5. doi: 10.1016/s0022-510x(99)00074-x.

Abstract

Two novel frameshift adrenoleukodystrophy mutations in two families were identified: a complex dinucleotide deletion/tetranucleotide insertion at 1116 TC-->GAGA (codon 244 [serine]) and an AG deletion at nucleotide 1462 (codon 359 [glutamic acid]). Both mutations are predicted to cause premature termination of protein synthesis. The patients were affected by childhood cerebral adrenoleukodystrophy and by adrenomyeloneuropathy with mild Addison disease, respectively.

Publication types

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

MeSH terms

  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / physiopathology
  • Adrenoleukodystrophy / psychology
  • Adult
  • Child
  • Exons
  • Frameshift Mutation / physiology*
  • Humans
  • Italy
  • Male
  • Pedigree
  • Reverse Transcriptase Polymerase Chain Reaction