Genetic map of Wilson disease in Spain – A great tool to improve diagnosis and screening

Abstract

Wilson disease (WD) is a rare genetic disease secondary to mutations in the ATP7B gene, which encodes a protein involved in copper excretion. There are more than 1000 different mutations among patients and diagnosis is sometimes difficult. Without treatment, WD leads to death but there are therapies that are so effective and offer a normal life to patients, if started early. Every population shows different mutations, so a genetic map of every country is very important for patients and physicians, to reach early diagnosis and therapy with the best prognosis for patients.