Efficient strategy for molecular diagnosis of Wilson disease in the sardinian population.

Wilson disease is an autosomic recessive disorder of copper transport resulting from the defective function of a copper transporting ATPase, ATP7B. More than 200 disease-causing mutations have been identified. In the Sardinian population, WD has an incidence of approximately 1 in 7000 live births. Using the Single-Strand Conformation Polymorphism (SSCP) and sequencing methods for mutation analysis, we have characterized 92% of the analysed chromosomes and identified 16 different WD causing-mutations, 6 of which (-441/-427 del, 213-214delAT, 1512-1513 ins T, R778W, 2463delC, V1146M) are relatively common and account for 85% of chromosomes. On the basis of these data, we developed a reverse dot-blot (RDB) method as a practical solution to mutation screening in this population.