Integrative identification of the pathogenic role of a novel G6PD missense mutation c.697G>C.

ABSTRACT:

Background

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a hereditary disease caused by pathogenic mutations of G6PD. While most of the pathogenic variants of G6PD have been annotated, hemolysis of unknown etiology but analogous to that in G6PD deficiency persists, implying the existence of undocumented pathogenic variants. In our previous study, we reported four novel G6PD variants in China, for which the pathogenicity remains to be verified.

Methods

The variants were verified by exogenous expression in HEK-293 cells, and their functions were predicted by PolyPhen-2 and SIFT. The CRISPR/Cas9 system was exploited to edit the G6PD c.697G>C variant in HEK-293 cells and K562 cells. The expression of G6PD was detected by quantitative P

SUBMITTER: Zhang H 

PROVIDER: S-EPMC7940930 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature