A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability
We confirmed that the SOX5 p.Thr74Met variant is associated with intellectual disability in a second-generation Chinese family. This mutant protein potentially exhibits increased stability, influences the cell cycle, and downregulates genes related to bone and neural functions.
Authors
- Xiaoling Guo (ORCID: https://orcid.org/0000-0002-8547-4285)
- Yingchun Zheng (ORCID: https://orcid.org/0000-0001-7902-6307)
- Juan Liu (ORCID: https://orcid.org/0000-0003-1283-5649)
- Fu Xiong
- Xingkun Yang (ORCID: https://orcid.org/0000-0002-5907-8182)
- Xiujuan Yang (ORCID: https://orcid.org/0000-0001-7746-790X)
- Xiaoqiang Zhou
- Jingli Lian
- Tingting Yang (ORCID: https://orcid.org/0000-0002-5220-588X)
- Zhongzhi Gan
- Qian Liu (ORCID: https://orcid.org/0000-0003-0560-4287)
- Chao Li (ORCID: https://orcid.org/0000-0002-1784-1688)
- Yuan Zhou (ORCID: https://orcid.org/0000-0002-9365-7460)
- Fei He (ORCID: https://orcid.org/0000-0002-9384-408X)
- Yue Liu (ORCID: https://orcid.org/0000-0001-8648-3856)
- Fuquan Chen (ORCID: https://orcid.org/0000-0002-4625-073X)
- Xiangmin Xu (ORCID: https://orcid.org/0000-0002-8652-1194)
- Xiang Huang
Institutions
- Guangdong Medical College (CN)
- Foshan Maternity and Child Health Care Hospital (CN)
- Nanfang Hospital (CN)
- Cell Technology (China) (HK)
- Zhujiang Hospital (CN)
- Southern Medical University (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-02-04
- DOI
- https://doi.org/10.1186/s13023-025-03548-z
- Primary Topic
- RNA and protein synthesis mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Guangdong Province
- Foshan Science and Technology Bureau