WILSON DISEASE MUTATIONS ASSOCIATED WITH UNCOMMON HAPLOTYPES IN MEDITERRANEAN PATIENTS

This study reports 12 novel mutations of the Wilson disease (WD) gene which have been detected by the molecular analysis of 29 patients of M editerranean descent carrying uncommon chromosomal haplotypes at the W D locus. These mutations include two nonsense, one splice site and nin e missense. The missense mutations lie in regions of the WD gene criti cal for its functions, such as the transmembrane region, the transduct ion domain and the ATP loop and ATP-binding domain, indicating that th ey are disease-causing mutations. These new findings improve our knowl edge for the role played by functional domains on the ATP7B function.