Identification of a novel mutation in Wilson disease patients from upper-Austria: A genetic and clinical study

Background and Aim: Wilson disease (WD), an autosomal recessive disorder of copper metabolism is caused by mutations in the ATP7B gene, a copper transporting ATPase. More than 200 mutations were reported so far, most of them occurring in single families. In the present study we describe 11 patients with a novel mutation in exon 9 of the ATP7B gene. Ten of them originating from the federal state of Upper-Austria with a population of about 1000000. Patients and Methods: The ATP7B gene was analyzed for mutations by denaturing HPLC and direct sequencing. DNA from 100 healthy blood donors from the same geographic are…