A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease.

ABSTRACT:

Background

Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain. This disease is mainly characterized by hepatic disorders and less frequently by neuro-psychiatric disturbances. This recessive disease is due to mutation in ATP7B, which codes for an ATPase involved in copper-transport across the plasma membrane. Molecular diagnosis of WD is positive in approximately 98% of cases. Also, in few cases, WD patients present a single deleterious mutation (heterozygous) or no mutation after sanger and NGS standard sequencing analysis of ATP7B. Therefore, in these problematic WD cases, we hypothesized that deleterious mutations reside in intronic regions of ATP7B.

Methods

Complete ATP7B gene was seq

SUBMITTER: Woimant F 

PROVIDER: S-EPMC7549599 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature