A novel G6PD gene variant in a Chinese girl with favism

Abstract

Background Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. The human G6PD gene is highly polymorphic, and over 200 mutations have been identified, many of which are associated with hemolytic anemia. Here, we analyzed the clinical genetics data of a Chinese girl with favism who developed acute hemolytic anemia after fava bean ingestion. Methods The clinical genetics data of the proband who developed acute hemolytic anemia were collected and analyzed, and G6PD gene exons were sequenced in the proband and her family. Results We reported for the first time a novel G6PD gene variant in a Chinese girl, which we named “G6PD Wuhan.” This variant is localized exon 3 of the G6PD gene at genomic position 141G > C, that is a change from p.Lys47 to Asn. The bioinformatics analysis and protein modeling study indicated this variant may have negative effects on the enzyme activity of G6PD. Conclusions Our results indicated that favism in the proband was caused by this novel heterozygous variant (c.141G > C) in G6PD. The variant in G6PD has implications for genetic counseling and could provide insights into the functional roles of G6PD mutations.

Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants

“…Wuhan, covering an area of 8569.15 km 2 , is a major city in central China and located in Hubei Province in the middle reaches of the Yangtze River. As of the 7th Nationwide Census in 2020, the resident population in this city reached 12.3265 million, including over 1 million college students, suggesting the entry of many new comers from all over the country, with a complex genetic background and a rapid floating characteristic, leading to the occurrence of many cases of G6PD deficiency in Wuhan, such as a novel heterozygous variant c.141G > C in a girl with favism as reported in our previous study ( Shen et al, 2020 ). In China, routine assays for newborn disease screening started relatively late, with G6PD deficiency being first included in newborn screening panels in 2008.…”