A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.
Yongqing TongBei LiuHongyun ZhengAnyu BaoZegang WuJian GuBi-Hua TanMary McGrathShriya KaneChunhua SongYan LiPublished in: BMC medical genetics (2020)
High rates of G6PD variants were detected in infants with pathological jaundice, and a novel Class I G6PD deleterious variants was identified in our cohort. Our data reveal that variant analysis is helpful for the diagnosis of D-G6PD in patients, and also for the expansion of the spectrum of known G6PD variants used for carrier detection and prenatal diagnosis.
Keyphrases
- copy number
- end stage renal disease
- chronic kidney disease
- newly diagnosed
- ejection fraction
- prognostic factors
- gene expression
- genome wide
- blood pressure
- adipose tissue
- electronic health record
- patient reported outcomes
- blood glucose
- data analysis
- replacement therapy
- loop mediated isothermal amplification
- real time pcr