Two novel variants in CNNM2 disrupts magnesium efflux leading to neurodevelopmental disorders
Our study expands the mutation and phenotypic spectrum, as well as the functional studies of <i>CNNM2</i>, and contributes to genetic testing and prenatal diagnosis in families with HOMGSMR1.
Authors
- Desheng Liang (ORCID: https://orcid.org/0000-0002-9451-8585)
- Zhuo Li (ORCID: https://orcid.org/0000-0001-6010-6139)
- Yingdi Liu
- Lingqian Wu (ORCID: https://orcid.org/0000-0002-7070-5896)
- Kuo‐Cheng Lu (ORCID: https://orcid.org/0000-0002-7062-8560)
- Jing Liu (ORCID: https://orcid.org/0000-0001-8708-3651)
- Huijuan Li (ORCID: https://orcid.org/0009-0004-3198-9971)
- Huimin Zhu (ORCID: https://orcid.org/0000-0002-4624-3783)
- Yaning Liu (ORCID: https://orcid.org/0000-0002-9926-6460)
- Juan Wen
Institutions
- Central South University (CN)
- Changsha Medical University (CN)
- Hunan Normal University (CN)
- Artificial Intelligence in Medicine (Canada) (CA)
- Hunan Provincial Maternal and Child Health Hospital (CN)
- Hainan Medical University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-06-19
- DOI
- https://doi.org/10.3389/fgene.2025.1600877
- Primary Topic
- Magnesium in Health and Disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Hunan Province