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

Abdul Khaliq Naveed, Asifa Majeed, Sumreena Mansoor


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.

Full Text:


DOI: http://dx.doi.org/10.5539/ijb.v2n1p117

International Journal of Biology   ISSN 1916-9671(Print)   ISSN 1916-968X  (Online)

Copyright © Canadian Center of Science and Education

To make sure that you can receive messages from us, please add the 'ccsenet.org' domain to your e-mail 'safe list'. If you do not receive e-mail in your 'inbox', check your 'bulk mail' or 'junk mail' folders.


scholar_logo_lg_2011_120 proquest_logo_120 lockss_logo_2_120