Distribution of patients with Wilson disease carrying the H1069Q mutation in Austria

Background/Aims: More than 100 different mutations of the Wilson disease (W D) gene have been reported so far, but only the H1069Q mutation is frequent ly found in patients of North and East European origin. We wanted to know i f 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 asymptomat ic siblings) with WD diagnosed in Austria were included in this study. Eighty-one of the 91 index patients were born in Austria. Evaluation criter ia included the place of birth of each member of the study group, as well a s of his parents and grandparents. R Results: Out of the 81 index patients born in Austria, 72 were tested for t he H1069Q mutation. Twelve (16.7%) were homozygous carriers of the H1069Q m utation, 29 (40.3%) were compound heterozygous and 31 (43.0%) had an unknow n 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). C ompound heterozygous patients showed a more variable geographical distribut ion with respect to their birthplace. The patients with unknown mutation we re scattered all over Austria. Conclusion: These data provide further evidence that the H1069Q mutation or iginates from Eastern Europe. In patients from these countries the PCR-base d testing for this mutation may be useful for differential diagnosis and fa mily studies.