Wilson disease, genotype and infertility: is there a correlation?

Excerpt

Wilson disease (WD; OMIM#277900) is a rare autosomal recessive disorder of copper metabolism, caused by mutations in the ATP7B gene (ATPase, Cu²⁺ transporting, beta polypeptide; OMIM#606882; 21 exons) and leading to hepatic or neurologic disease. The wide spectrum of symptoms in patients with Wilson’s disease raised the question whether these features are determined by the type of the ATP7B mutation. To date, more than 500 mutations have been identified in patients with Wilson disease [1], and genetic studies are also becoming available for clinical use, but the utility of direct mutation analysis is limited. In this report, we try to establish relationship between phenotype (WD) and genotype (mutation through ATP7B gene). …