P.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease.

ABSTRACT:

Background

Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by inherited defects in the ATP7B gene and results in toxic accumulation of copper in various organs. We previously reported a family with three consecutive generations affected by WD that carries the variant, p.P1379S, which was classified at the time as likely pathogenic. However, recent investigations of the p.P1379S variant indicate a possible conflict of interpretations regarding its pathogenicity. This led us to explore the quantification of ATP7B in dried blood spots (DBS) using a surrogate peptide to study the effects of the p.P1379S variant on ATP7B concentrations in two unrelated families with the common p.P1379S variant.

Methods and results

ATP7B was quantified usin

SUBMITTER: Yi F 

PROVIDER: S-EPMC7358663 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature