High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.

ABSTRACT:

Background

Wilson's disease (WD) is a rare autosomal recessive metabolic disease caused by ATP7B gene mutations tat cause excessively high copper levels, particularly in the liver and brain. The WD phenotype varies in terms of its clinical presentation and intensity. Diagnosing this metabolic disorder is important as a lifelong treatment, based on the use of copper chelating agents or zinc salts, is more effective if it's started early. Worldwide prevalence of WD is variable, with an average of 1/30,000. In France, a recent study based on French health insurance data estimated the clinical prevalence of the disease to be around 3/200,000.

Methods

To estimate the genetic prevalence of WD in France, we analysed the ATP7B gene by Next Generation Sequencing from a large French c

SUBMITTER: Collet C 

PROVIDER: S-EPMC6086069 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature