Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.

ABSTRACT:

Background

Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B (encoding a copper-transporting P-type ATPase) variants that shows various characteristics according to race and geographical region. This study was aimed to provide a comprehensive analysis of ATP7B variants in China and to investigate a plausible role of common variants in WD manifestations.

Methods

A total of 1366 patients (1302 index patients and 64 siblings) clinically diagnosed with WD (Leipzig score ≥ 4) were recruited. They underwent ATP7B gene sequencing and information of age and symptoms at onset was collected. The genotype-phenotype correlation was assessed in the index patients who were examined with two pathogenic variants and onset with hepatic (n = 276) or

SUBMITTER: Zhang S 

PROVIDER: S-EPMC8883683 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature