Three novel variants in X-linked adrenoleukodystrophy

J Child Neurol. 2009 Jul;24(7):857-60. doi: 10.1177/0883073808330764. Epub 2009 Apr 30.

Abstract

X-linked adrenoleukodystrophy is an inherited neurological disorder caused by mutations in the ABCD1 gene (located on chromosome Xq28) encoding adrenoleukodystrophy protein which is involved in the transport of substrates from the cytoplasm into the peroxisomal lumen. There is a scarcity of reports on mutation analysis of X-linked adrenoleukodystrophy from India. Here, we report 3 novel variants (c.67_83del17, c.395G>A, c.1938_1939dupGG) in 3 unrelated Indian families.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenoleukodystrophy / genetics*
  • Adult
  • Child
  • Codon, Nonsense
  • DNA Mutational Analysis
  • Family
  • Frameshift Mutation
  • Genetic Variation*
  • Humans
  • India
  • Male
  • Young Adult

Substances

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