A novel polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene variant potentially associated with combined oxidative phosphorylation deficiency 13: case report and literature review
The novel <i>PNPT1</i> gene variant, c.1033A>G (p.K345E), is predicted to disrupt the secondary and tertiary structures of the PNPT1 protein, impairing its normal function. This disruption may lead to mitochondrial RNA processing defects, contributing to the development of COXPD13.
Authors
- Guangfu Chen (ORCID: https://orcid.org/0009-0001-1160-7348)
- Xiaoling Zhong (ORCID: https://orcid.org/0000-0002-9458-5382)
- Yanyan Li (ORCID: https://orcid.org/0009-0005-7231-9293)
- Yan Gao (ORCID: https://orcid.org/0000-0003-0305-3696)
Institutions
- Shenzhen Maternity and Child Healthcare Hospital (CN)
Publication Details
- Journal
- Translational Pediatrics
- Published
- 2025-02-01
- DOI
- https://doi.org/10.21037/tp-24-419
- Primary Topic
- Biochemical and Molecular Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00