Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.

ABSTRACT:

Background

Wilson's disease (WD) is a rare autosomal recessive inherited disorder that is induced by defects of the ATP7B gene and characterized by damage to the liver and nervous system caused by aberrant copper metabolism. The identification of pathogenic mutations on two homologous chromosomes has become the gold standard for the diagnosis of WD.

Methods

Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) were combined to establish a genetic diagnosis for patients from 53 unrelated Chinese WD families.

Results

Biallelic mutations were detected by Sanger sequencing in 50 of the probands, while single heterozygous mutations were detected in the remaining three probands. A total of 45 diverse pathogenic mutations were detected, and 6 previous

SUBMITTER: Xiao Z 

PROVIDER: S-EPMC8457707 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature