A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.

ABSTRACT:

Background

Glucose-6-phosphate dehydrogenase deficiency (D-G6PD) is an X-linked recessive disorder resulted from deleterious variants in the housekeeping gene Glucose-6-phosphate 1-dehydrogenase (G6PD), causing impaired response to oxidizing agents. Screening for new variations of the gene helps with early diagnosis of D-G6PD resulting in a reduction of disease related complications and ultimately increased life expectancy of the patients.

Methods

One thousand five hundred sixty-five infants with pathological jaundice were screened for G6PD variants by Sanger sequencing all of the 13 exons, and the junctions of exons and introns of the G6PD gene.

Results

We detected G6PD variants in 439 (28.1%) of the 1565 infants with pathological jaundice. In total, 9 types of G6PD

SUBMITTER: Tong Y 

PROVIDER: S-EPMC7367331 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature