Case Report: Biallelic variants in MRPS36, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome
This case supports <i>MRPS36</i> as a novel pathogenic cause of Leigh syndrome, further expanding the genetic spectrum of the disorder. Key clinical features include developmental delay, involuntary movement disorders, progressive basal ganglia atrophy, and a slowly progressive disease course.
Authors
- Huafang Jiang (ORCID: https://orcid.org/0000-0002-6632-1793)
- Ruoyu Duan
- Zhimei Liu (ORCID: https://orcid.org/0000-0003-0393-7598)
- Xingfeng Yao (ORCID: https://orcid.org/0009-0000-9016-5084)
- Xue-Jing Kang
- Tenghui Yu (ORCID: https://orcid.org/0000-0002-7408-1902)
- Chaolong Xu (ORCID: https://orcid.org/0009-0006-1460-1933)
- Xiaona Fu (ORCID: https://orcid.org/0000-0003-2520-2912)
- Fang Fang (ORCID: https://orcid.org/0000-0002-1587-9965)
- Yuanyuan Wang (ORCID: https://orcid.org/0000-0001-8181-3465)
- Jiatong Xu
Institutions
- Capital Medical University (CN)
- Beijing Children’s Hospital (CN)
- Weifang Maternity and Child Care Hospital (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-09-12
- DOI
- https://doi.org/10.3389/fped.2025.1608840
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00