Mutation spectrum of ATP7A, the gene defective in Menkes disease

Adv Exp Med Biol. 1999;448:83-95. doi: 10.1007/978-1-4615-4859-1_7.


Our knowledge about Menkes disease (MD) has expanded greatly since its description in 1962 as a new X-linked recessive neurodegenerative disorder of early infancy. Ten years later a defect in copper metabolism was established as the underlying biochemical deficiency. In the beginning of 1990s efforts were concentrated on the molecular genetic aspects. The disease locus was mapped to Xq13.3 and the gene has been isolated by means of positional cloning. This was the beginning of a series of new findings which have greatly enhanced our understanding of copper metabolism not only in human, but also in other species. This review will focus on the molecular genetic aspects of Menkes disease and its allelic form occipital horn syndrome. The mutations will be compared briefly with those described in the animal model mottled mouse, and in Wilson disease, the autosomal recessive disorder of copper metabolism.

Publication types

  • Review

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Animals
  • Carrier Proteins / genetics*
  • Cation Transport Proteins*
  • Copper-Transporting ATPases
  • Genotype
  • Humans
  • Menkes Kinky Hair Syndrome / enzymology*
  • Menkes Kinky Hair Syndrome / genetics*
  • Mice
  • Mutation*
  • Phenotype
  • Recombinant Fusion Proteins*


  • Atp7a protein, mouse
  • Carrier Proteins
  • Cation Transport Proteins
  • Recombinant Fusion Proteins
  • Adenosine Triphosphatases
  • ATP7A protein, human
  • Copper-Transporting ATPases