Characteristics of G6PD mutations in newborns with G6PD deficiency from 2021 to 2022 in Heze, China

The incidence of G6PD deficiency was 0.07% (80/114,285). We identified 17 mutation types with a 100% G6PD mutation detection rate, including four mutations not reported previously in the Chinese population: c.682G>A, c.479G>A, c.404A>T, and c.486-7C>G. The heterozygous missense mutations c.479G>A/p.S160N and c.404A>T/p.N135I increased mRNA levels, decreased protein expression, and reduced G6PD activity.

Neonatal G6PD deficiency in Heze is rare, and the most commonly mutated loci were c.1388G>A, c.487G>A, and c.1376G>T. Four novel G6PD mutations were identified, of which c.479G>A/p.S160N, and c.404A>T/p.N135I are potentially pathogenic. These mutations may cause G6PD deficiency via different mechanisms, thereby requiring further experimental investigation.