Toxic accumulation of copper and neuropsychiatric symptoms due to a familial tunisian compound heterozygous ATP7B missense mutation

ABSTRACT:

Introduction

Wilson disease (WD) is an autosomal recessive genetic disorder caused by loss-of-function mutations in the P-type copper ATPase, ATP7B (ATPase copper-transporting beta), which transports copper out of cells. It is characterized by toxic accumulation of copper primarily in the liver and brain, leading to liver disorders and/or neuropsychiatric symptoms.

Objectives

Here, we report a Tunisian pedigree associated to familial ATP7B gene mutation.

Methods

Medical genetic investigations, and molecular screening of ATP7B gene mutations were performed to a Tunisian three-generation pedigree with eight members having neuropsychiatric symptoms. Molecular genetic testing of the ATP7B 21 exons was carried out by direct sequencing.

Results

A compound hete

SUBMITTER: Abdelmoula N 

PROVIDER: S-EPMC9480414 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature