Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report.

ABSTRACT:

Background

Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ceruloplasmin. Hepatic failure and neuronal degeneration are the major symptoms of Wilson disease. Mutations in the ATP7B gene are the major cause of Wilson disease.

Case presentation

In this study we have screened one pedigree with several affected members, including a 24-year-old Iranian woman and a 20-year-old Iranian man, who showed psychiatric and neurological symptoms of varying severity, by amplifying the coding regions including exon-intron boundaries with polymerase chain reaction and sequencing. We ident

SUBMITTER: Daneshjoo O 

PROVIDER: S-EPMC5853083 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature