Functional analysis of MEIS2 splice site variant c.438 + 1G>T in a congenital heart patient
Minigene splicing assay revealed a new molecular marker for the definitive diagnosis and genetic counseling of CHD. Functional analysis to verify intronic pathogenicity has important diagnostic value. The study expanded the <i>MEIS2</i> genetic spectrum and provided laboratory evidence for clinical diagnosis and treatment.
Authors
- Bo Jiang (ORCID: https://orcid.org/0000-0002-1577-7272)
- Xudong Ma (ORCID: https://orcid.org/0000-0002-5943-0879)
- Junjuan Li (ORCID: https://orcid.org/0000-0001-6110-7635)
- Jiwei Gu (ORCID: https://orcid.org/0000-0002-4908-7544)
- Fan Wu (ORCID: https://orcid.org/0000-0003-0720-4674)
- Wenqi Li (ORCID: https://orcid.org/0000-0003-1081-2830)
- Hua Bai (ORCID: https://orcid.org/0000-0002-7905-6562)
- Chenyu Xu (ORCID: https://orcid.org/0000-0001-5049-3323)
- Chunlian Liu (ORCID: https://orcid.org/0000-0003-0318-2009)
Institutions
- Ningxia Medical University (CN)
- Ningxia Medical University General Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-09-25
- DOI
- https://doi.org/10.3389/fgene.2025.1629159
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China