A Novel ABCD1 Gene Mutation in a Chinese Patient With X-linked Adrenoleukodystrophy

J Pediatr Endocrinol Metab. 2015 May;28(5-6):725-9. doi: 10.1515/jpem-2013-0441.

Abstract

Background: X-linked adrenoleukodystrophy (X-ALD) (OMIM: 300100) is a recessive neurodegenerative disorder caused by defects in the ABCD1 gene on chromosome Xq28. Childhood cerebral ALD (CCALD) is the most frequent phenotype.

Objective: We describe an affected boy who developed normally until he was 8 years old then suffered progressive neurological deficits that ultimately led to death.

Methods: Diagnosis was based on clinical symptoms, an abnormal very long chain fatty acid profile in plasma, typical CCALD MRI pattern, and molecular analysis.

Results: Direct sequencing of the ABCD1 gene in this patient identified a novel splicing mutation (IVS1+1G>A) in intron 1, which is considered to be the pathogenic mutation.

Conclusion: We have identified a novel ABCD1 mutation as the likely cause of CCALD in a Chinese patient.

Publication types

  • Classical Article

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / chemistry
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenoleukodystrophy / genetics*
  • Amino Acid Sequence
  • Animals
  • Child
  • China
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Sequence Homology, Amino Acid

Substances

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