Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423.

Abstract

Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. This gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 9 / genetics*
  • DNA Primers
  • Female
  • Friedreich Ataxia / genetics*
  • Genes, Recessive
  • Heterozygote
  • Humans
  • Introns*
  • Iron-Binding Proteins*
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation
  • Polymerase Chain Reaction
  • Proteins / chemistry
  • Proteins / genetics*
  • Sequence Alignment
  • Trinucleotide Repeats*

Substances

  • DNA Primers
  • Iron-Binding Proteins
  • Proteins
  • frataxin

Associated data

  • GENBANK/U43747
  • GENBANK/U43748
  • GENBANK/U43749
  • GENBANK/U43750
  • GENBANK/U43751
  • GENBANK/U43752
  • GENBANK/U43753