A de novo mutation in RAB11A is associated with neurodevelopmental disorder accompanied by variable multisystem abnormalities
Our study collectively demonstrated that the <i>RAB11A</i> mutation c.370A>G is associated with neurodevelopmental disorders, characterized by motor deficits and brain anomalies. Additionally, we have successfully developed a zebrafish model to recapitulate these neurodevelopmental disorders associated with <i>RAB11A</i> deficiency, offering a valuable genetic resource for further investigation into this disease.
Authors
- Mengqiu Li (ORCID: https://orcid.org/0000-0001-5236-9895)
- Zhehui Chen (ORCID: https://orcid.org/0000-0002-6139-5347)
- Ying Jin (ORCID: https://orcid.org/0000-0001-7105-3052)
- Huiting Zhang (ORCID: https://orcid.org/0000-0003-1741-9492)
- Feng Gu (ORCID: https://orcid.org/0000-0002-5954-5596)
- Hui Dong (ORCID: https://orcid.org/0000-0001-5021-1349)
- Yao Zhang (ORCID: https://orcid.org/0000-0002-6201-2109)
- Jingtao Zhang (ORCID: https://orcid.org/0000-0002-9548-7805)
- Yanling Yang (ORCID: https://orcid.org/0000-0002-3772-653X)
- Xue Ma
Institutions
- Hunan Normal University (CN)
- Xiamen University (CN)
- Peking University (CN)
- Peking University First Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-09-01
- DOI
- https://doi.org/10.3389/fgene.2025.1636206
- Primary Topic
- Cellular transport and secretion
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Key Research and Development Program of China