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The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease
  1. IRINA A IVANOVA-SMOLENSKAYA,
  2. IGOR V OVCHINNIKOV,
  3. ALEXEY V KARABANOV,
  4. NATALYA L DEINEKO,
  5. VSEVOLOD V POLESHCHUK,
  6. ELENA D MARKOVA,
  7. SERGEI N ILLARIOSHKIN
  1. Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences, Volokolamskoye Shosse 80, Moscow 123367, Russia

    https://doi.org/10.1136/jmg.36.2.174

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      Editor—Wilson disease (WD), or hepatolenticular degeneration, is an autosomal recessive disorder of copper transport characterised by toxic accumulation of copper in a number of organs, principally the liver, brain, and kidney.1 An effective treatment strategy in patients with WD is based on removal of excess copper by chelating agents or zinc salts.

      The gene for WD, originally assigned to chromosome 13 by linkage studies,2 was recently cloned and encodes a putative copper transporting P type ATPase (ATP7B).3 4 To date, more than 50 disease specific mutations have been identified in a number of WD patients from different countries.5 6 Some of these mutations were reported to be frequent in specific populations, which may help to introduce rapid diagnostic procedures based on direct DNA analysis into routine clinical practice. One of the most common mutations, His1069Gln, accounts for 22-31% of the WD chromosomes in European and American …

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