Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.

ABSTRACT:

Objectives

Wilson disease (WD) is a rare autosomal recessive genetic disorder associated with various mutations in the ATP7B gene and leads to significant disability or death if untreated. Early diagnosis and proper therapy usually predict a good prognosis, especially in pre-symptomatic WD. Genetic testing provides an accurate and effective diagnostic method for the early diagnosis of WD.

Methods

We recruited 18 clinically diagnosed WD patients from 16 unrelated families and two independent individuals. The next-generation sequencing of the ATP7B gene was performed. The 293T cell lines were divided into wild-type (WT) ATP7B and mutated ATP7B groups. Cell proliferation was determined by Cell Counting Kit-8 (CCK-8) assay and apoptosis was detected by Annexin V/propidium iodide

SUBMITTER: Huang C 

PROVIDER: S-EPMC9169201 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature