Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease.

ABSTRACT:

Background

Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by allelic variants in ATP7B gene. More than 500 distinct variants have been reported, the most common WD causing allelic variant in the patients from Central, Eastern, and Northern Europe is H1069Q.

Methods

All Latvian patients with clinically confirmed WD were screened for the most common mutation p.H1069Q by PCR Bi-PASA method. Direct DNA sequencing of gene ATP7B (all 21 exons) was performed for the patients with WD symptoms, being either heterozygous for H1069Q or without it on any allele.

Results

We identified 15 different allelic variants along with eight non-disease-causing allelic variants. Based on the gene molecular analysis and patients' clinical data

SUBMITTER: Zarina A 

PROVIDER: S-EPMC5511797 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature