Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease.

ABSTRACT:

Background

Wilson disease (OMIM # 277900) is a autosomal recessive disorder characterized by accumulation of copper in liver and brain. The accumulation of copper resulting in oxidative stress and eventually cell death. The disease has an onset in a childhood and result in a significant neurological impairment or require lifelong treatment. Another serious consequence of the disease is the development of liver damage and acute liver failure leading to liver transplant. The disorder is caused by mutations in the ATP7B gene, encoding a P-type copper transporting ATPase.

Case presentation

We performed genetic analysis of three unrelated patients from three different Vietnamese families. These patients had clinical features such as numbness of hands and feet, vomiting, insomnia,

SUBMITTER: Huong NTM 

PROVIDER: S-EPMC6006946 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature