title: Distribution of patients with Wilson disease carrying the H1069Q mutation in Austria.
abstract: OBJECTIVE
  More than 100 different mutations of the Wilson disease (WD) gene have been reported so far, but only the H1069Q mutation is frequently found in patients of North and East European origin. We wanted to know if there is a connection between the migration pattern in Central Europe and the geographical distribution of this mutation in Austria.
  
  
  METHODS
  One hundred and nine patients (91 index patients and 18 asymptomatic siblings) with WD diagnosed in Austria were included in this study. Eighty-one of the 91 index patients were born in Austria. Evaluation criteria included the place of birth of each member of the study group, as well as of his parents and grandparents.
  
  
  RESULTS
  Out of the 81 index patients born in Austria, 72 were tested for the H1069Q mutation. Twelve (16.7%) were homozygous carriers of the H1069Q mutation, 29 (40.3%) were compound heterozygous and 31 (43.0%) had an unknown mutation on both chromosomes. Eight of the twelve H1069Q homozygotes were born close to the northeastern border of Austria (neighboring the Czech Republic, Slovakia and Hungary). Compound heterozygous patients showed a more variable geographical distribution with respect to their birthplace. The patients with unknown mutation were scattered all over Austria.
  
  
  CONCLUSIONS
  These data provide further evidence that the H1069Q mutation originates from Eastern Europe. In patients from these countries the PCR-based testing for this mutation may be useful for differential diagnosis and family studies.
authors.affiliation: Department of Internal Medicine V, Wilhelminenspital, Vienna, Austria.
authors.forename: E
authors.initials: E
authors.lastname: Cauza
authors.forename: H
authors.initials: H
authors.lastname: Ulrich-Pur
authors.forename: C
authors.initials: C
authors.lastname: Polli
authors.forename: A
authors.initials: A
authors.lastname: Gangl
authors.forename: P
authors.initials: P
authors.lastname: Ferenci
mesh_terms: D019943:Amino Acid Substitution; D001317:Austria / Q000453:epidemiology; D004641:Emigration and Immigration; D005061:Europe, Eastern / Q000453:epidemiology; D005091:Exons; D005260:Female; D006527:Hepatolenticular Degeneration / Q000453:epidemiology* / Q000235:genetics*; D006639:Histidine / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D011159:Population Surveillance; D015995:Prevalence; D011795:Surveys and Questionnaires
chemical_list: D006639:Histidine