Studio di fattibilità di screening neonatale della malattia di Wilson sulla popolazione sarda

Herein we report the results of mutation-based screening for Wilson disease (WD) in Sardinia. Patients and Methods: In Sardinia, a limited screening was performed for -441/-427 del in 5290 newborns using “allelic discrimination by 5' Nuclease Assay” and “Real time PCR”. Results: In Sardinia, mutation analysis showed the presence of 6 mutations accounting for 85% of chromosomes, 1 of which (-441/-427del) is present in 61.7% of alleles. The screening for -441/-427del in 5290 newborns revealed the presence of 122 heterozygotes, which is equal to an allelic frequency of 1.15%. Assuming the same distribuition of WD mutations in the general Sardinian population, we also inferred an allelic frequency of 0.77% for mutation other than -441/-427del, which accounts for an overall frequency of any WD mutation of 1.92%. Assuming Hardy-Weinberg equilibrium, these data could be translated into a WD incidence of 1 in 2707 live births. Conclusions: These data indicate the need for health education for WD prevention in that isolated population.