A novel frameshift STAG1 variant exhibiting haploinsufficiency due to the nonsense-mediated mRNA decay: a case report and literature review
MRD47 exhibits non-specific characteristics and diverse clinical phenotypes. Our functional studies have provided preliminary evidence confirming the haploinsufficiency of the <i>STAG1</i> gene as the underlying pathogenic mechanism of MRD47. This study also expanded the mutational spectrum of the <i>STAG1</i> gene and the clinical spectrum of MRD47.
Authors
- Cuicui Jiang (ORCID: https://orcid.org/0000-0002-7618-733X)
- Ke Wu
- Ying Zhou (ORCID: https://orcid.org/0000-0003-3607-8216)
Institutions
- Quzhou City People's Hospital (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-10-24
- DOI
- https://doi.org/10.3389/fped.2025.1648430
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00