Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency.

ABSTRACT:

Background

We describe the genetic profiles of Korean patients with glucose-6-phosphate dehydrogenase (G6PD) deficiencies and the effects of G6PD mutations on protein stability and enzyme activity on the basis of in silico analysis.

Methods

In parallel with a genetic analysis, the pathogenicity of G6PD mutations detected in Korean patients was predicted in silico. The simulated effects of G6PD mutations were compared to the WHO classes based on G6PD enzyme activity. Four previously reported mutations and three newly diagnosed patients with missense mutations were estimated.

Results

One novel mutation (p.Cys385Gly, labeled G6PD Kangnam) and two known mutations [p.Ile220Met (G6PD São Paulo) and p.Glu416Lys (G6PD Tokyo)] were identified in this study. G6PD mutations iden

SUBMITTER: Lee J 

PROVIDER: S-EPMC5203987 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature