Prenatal Diagnosis of COQ2 Variants in Suspected Coenzyme Q10 Deficiency
To the best of our knowledge, this study provided the first experimental evidence for the hypomorphic nature of c.973A>G, observed in Asian cohorts with nephropathy but previously classified as a variant of uncertain significance. The variant has a minor allele frequency of 0.00071 in the gnomAD East Asian population, compared with < 0.00001 globally. This study expanded the screening spectrum of <i>COQ2</i> and provided mechanistic insights into genotype-phenotype correlations in primary CoQ10 deficiency.
Authors
- Zhanqi Feng
- Bing Kang (ORCID: https://orcid.org/0009-0003-1614-3946)
- Mei Tan (ORCID: https://orcid.org/0000-0001-6408-6091)
- Hongdan Wang (ORCID: https://orcid.org/0000-0001-6498-9979)
- Liangjie Guo
- Mengting Zhang (ORCID: https://orcid.org/0000-0003-0375-1400)
- Shixiu Liao (ORCID: https://orcid.org/0000-0002-7173-7654)
- Yue Gao
- Xiuming Liu
Institutions
- Zhengzhou People's Hospital (CN)
Publication Details
- Journal
- Kidney International Reports
- Published
- 2025-08-26
- DOI
- https://doi.org/10.1016/j.ekir.2025.08.023
- Primary Topic
- Coenzyme Q10 studies and effects
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Health Commission of Henan Province
- National Natural Science Foundation of China
- Natural Science Foundation of Henan Province
- Science and Technology Department, Henan Province
- National Health Commission of the People's Republic of China
- Henan Provincial Science and Technology Research Project