English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

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  variants were identified in our cohort; and a novel  G6PD  missense variant c.1118 T > C, p.Phe373Ser in exon 9 of the  G6PD  gene was detected in three families. Infants with this novel variant showed decreased activity of G6PD, severe anemia, and pathological jaundice, consistent with Class I  G6PD  deleterious variants. Analysis of the resulting protein’s structure revealed this novel variant affects G6PD protein stability, which could be responsible for the pathogenesis of D-G6PD in these patients.    Conclusions  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.

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