Novel LARS2 variants in patients with Perrault syndrome: expanding the genetic spectrum and phenotypic heterogeneity
We identified two novel <i>LARS2</i> variants associated with PS in Chinese patients, thereby expanding the <i>LARS2</i> genetic spectrum and providing precise molecular evidence for clinical management and genetic counseling. This study enhances understanding of genotype-phenotype correlations in PS, thereby revealing the phenotypic heterogeneity of <i>LARS2</i> variants.
Authors
- Nana Song (ORCID: https://orcid.org/0000-0002-8353-0706)
- Xinyu Shi (ORCID: https://orcid.org/0000-0001-9586-2460)
- Xiangzhong Sun
- Yanan Sun (ORCID: https://orcid.org/0000-0003-4940-3743)
- Jiguang Peng (ORCID: https://orcid.org/0000-0002-3113-113X)
- XiangHong OU
- Zibin Lin (ORCID: https://orcid.org/0009-0005-3039-9635)
- Jiangfan Xu
- Haodong Ye
- Qinming Cai
- Jing Yang
- Xiaozhou Liu
- Jiale Xiang
Institutions
- BGI Group (China) (CN)
- Hunan Normal University (CN)
- Wuhan Union Hospital (CN)
- Second Affiliated Hospital of Shandong University of TCM (CN)
- Union Hospital (CN)
- University of Chinese Academy of Sciences (CN)
- Hunan Provincial Maternal and Child Health Hospital (CN)
- BGI Genomics
- Huazhong University of Science and Technology (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2026-02-17
- DOI
- https://doi.org/10.3389/fgene.2026.1785502
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00