Characteristics of glucose-6-phosphate dehydrogenase mutations in newborns with deficiency from 2021 to 2022 in the Heze area of China
The incidence of neonatal G6PD deficiency in the Heze area is low, and the most commonly mutated loci were c.1388G>A, c.487G>A, and c.1376G>T. Among these mutations, 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.
Authors
- Yanan Duan (ORCID: https://orcid.org/0000-0001-9167-1675)
- Xinzhong Zhang (ORCID: https://orcid.org/0000-0001-7369-5761)
- Renwei Zhang (ORCID: https://orcid.org/0009-0002-3004-316X)
- Xiaohong Zhang (ORCID: https://orcid.org/0000-0002-6732-2499)
- Ling Li (ORCID: https://orcid.org/0000-0003-0083-6978)
- Miaomiao Li (ORCID: https://orcid.org/0000-0003-1290-7120)
- Shiguo Liu (ORCID: https://orcid.org/0000-0001-6474-4082)
Institutions
- Qingdao University (CN)
- Heze Medical College (CN)
- Affiliated Hospital of Qingdao University (CN)
- Heze Municipal Hospital (CN)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-04-17
- DOI
- https://doi.org/10.3389/fimmu.2025.1472474
- Citations
- 1
- Primary Topic
- Neonatal Health and Biochemistry
- Type
- article
- Field-Weighted Citation Impact
- 3.49
Funders
- National Natural Science Foundation of China