Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy

J Pediatr Endocrinol Metab. 2019 Nov 26;32(11):1207-1215. doi: 10.1515/jpem-2019-0244.


Background X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the ABCD1 gene located on Xq28. X-ALD is characterized by a spectrum of different manifestations varying in patients and families. Methods Four pedigrees with X-ALD consisting of patients and healthy members were selected for investigation of ABCD1 gene mutations. The mutation analysis was performed by polymerase chain reaction (PCR) followed by direct sequencing of all exons. The identified mutations were investigated using bioinformatics tools to predict their effects on the protein product and also to compare the mutated sequence with close species. Results One previously known missense mutation (c.1978 C > T) and three novel mutations (c.1797dupT, c.879delC, c.1218 C > G) were identified in the ABCD1 gene, each in one family. Predicting the effects of the mutations on protein structure and function indicated the probable damaging effect for them with significant alterations in the protein structure. We found three novel mutations in the ABCD1 gene with damaging effects on its protein product and responsible for X-ALD.

Keywords: ABCD1; X-ALD; X-linked adrenoleukodystrophy; novel mutation.

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1 / genetics*
  • Adolescent
  • Adrenoleukodystrophy / epidemiology
  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / pathology
  • Adult
  • Age of Onset
  • Child
  • DNA Mutational Analysis
  • Female
  • Follow-Up Studies
  • Humans
  • Iran
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Prognosis
  • Young Adult


  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1