Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease.

ABSTRACT: Background: Diagnosis of rare Wilson disease (WD) in pediatric patients is difficult, in particular when hepatic manifestation is absent. Genetic analysis of ATP7B represents the single major determinant of the diagnostic scoring system in WD children having mild symptoms. Objectives: To assess the impact of molecularly expressed ATP7B gene products in order to assist diagnosis of Wilson disease in pediatric patients having a novel mutation and subtle neuropsychiatric disease. Methods: The medical history, clinical presentation, biochemical parameters, and the genetic analysis of ATP7B were determined. Due to ambiguous clinical and biochemical findings and identification of a novel compound ATP7B mutation with unknown disease-causing status, a mole

SUBMITTER: Guttmann S 

PROVIDER: S-EPMC5937294 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature