Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients

Macarena Gomez-Lira, Chiara Perusi, Monica Mottes, Pier Franco Pignatti, Graziella Uziel, Nicolò Rizzuto, Alessandro Salviati

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)62-65
Number of pages4
JournalJournal of the Neurological Sciences
Volume165
Issue number1
DOIs
Publication statusPublished - May 1 1999

Keywords

  • ALD
  • Frameshift mutations
  • Phenotype-genotype

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Neuroscience(all)
  • Developmental Neuroscience
  • Neurology

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