Mutation Spectrum of ATP7A, the Gene Defective in Menkes Disease

  • Zeynep Tümer
  • Lisbeth Birk Møller
  • Nina Horn
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 448)


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 Xql3.3 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.


Splice Site Mutation Wilson Disease Menkes Disease ATP7B Gene Kennedy Institute 
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Copyright information

© Springer Science+Business Media New York 1999

Authors and Affiliations

  • Zeynep Tümer
    • 1
    • 2
  • Lisbeth Birk Møller
    • 2
  • Nina Horn
    • 2
  1. 1.Department of Medical Genetics, Panum InstituteUniversity of CopenhagenCopenhagenDenmark
  2. 2.The John F. Kennedy InstituteGlostrupDenmark

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