A Novel ABCD1 Gene Mutation in a Chinese-Taiwanese Patient With Adrenomyeloneuropathy

Pediatr Neurol. 2007 May;36(5):348-50. doi: 10.1016/j.pediatrneurol.2006.12.009.

Abstract

The ABCD1 gene mutation (previously ALD) has been reported in China, but not previously in Taiwan. This case report describes one Taiwanese patient whose clinical manifestations were compatible with adrenomyeloneuropathy. Direct sequencing for the ABCD1 gene of this patient and his mother detected a novel missense mutation, K513Q, in exon 6, the first such detected in a Taiwanese patient. Previous studies have suggested exon 6 as a possible hot segment of ABCD1 gene mutations in Chinese populations; however, most of the mutations in exon 6 presented as childhood cerebral adrenoleukodystrophy. K513Q is also the first novel mutation located within exon 6 and presenting with adult-onset adrenomyeloneuropathy in Chinese-Taiwanese.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenoleukodystrophy / ethnology*
  • Adrenoleukodystrophy / genetics*
  • Adult
  • Asian Continental Ancestry Group / genetics*
  • Exons / genetics
  • Female
  • Humans
  • Point Mutation / genetics*
  • Taiwan

Substances

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