title: A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy.
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.
  
  
  CONCLUSIONS
  We have identified a novel ABCD1 mutation as the likely cause of CCALD in a Chinese patient.
authors.forename: Yan-na
authors.initials: YN
authors.lastname: Cai
authors.forename: Min-yan
authors.initials: MY
authors.lastname: Jiang
authors.forename: Cui-li
authors.initials: CL
authors.lastname: Liang
authors.forename: Min-zhi
authors.initials: MZ
authors.lastname: Peng
authors.forename: Jing
authors.initials: J
authors.lastname: Cheng
authors.forename: Hui-ying
authors.initials: HY
authors.lastname: Sheng
authors.forename: Li-ping
authors.initials: LP
authors.lastname: Fan
authors.forename: Xi-qing
authors.initials: XQ
authors.lastname: Chen
authors.forename: Li
authors.initials: L
authors.lastname: Liu
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000737:chemistry / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D002648:Child; D002681:China; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017386:Sequence Homology, Amino Acid
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters