Spectrum of ATP7B Gene Mutations in Pakistani Wilson Disease Patients: A Novel Mutation Is Associated with Severe Hepatic and Neurological Complication

Abstract

Wilson disease (WND) is an autosomal recessive disorder caused by mutation in ATP7B gene that impairs copper
metabolism. ATP7B is involved in the transport of copper into the plasma protein ceruloplasmin and copper excretion
out of the liver. Defects in ATP7B lead to excess of copper in various organs primarily in liver. The diagnosis of WND
is more complex due to variations in its biochemical and clinical features and the broad range of disease onset. The
objective of the present study was to establish molecular analysis system for screening of Wilson disease in Pakistani
population. Three mutations were identified; with one being is a novel mutation never reported before.