Screening for mutations in ATP7B gene using conformation-sensitive gel electrophoresis in a family with Wilson's disease.

Background: Wilson's disease (WD) is an autosomal recessive disorder leading to copper overload, mainly in the liver and brain, due to mutations in the ATP7B gene. About 10% of heterozygous carriers of ATP7B gene mutations have decreased serum ceruloplasmin, posing diagnostic difficulties.

Case Report: We report a four-member family wherein the 11-year-old daughter was diagnosed as having WD based on standard biochemical tests and the presence of Kayser Fleischer rings.