[Clinical feature and genetic analysis of a child with X-linked Opitz G/BBB syndrome caused by nonsense variant in the MID1 gene mediated by mRNA degradation escape].
The mild clinical phenotype of OS in this child may be attributed to the mRNA degradation escape mechanism induced by the nonsense variant c.1483C>T (p.R495X) in the MIDI gene. These findings provide valuable diagnostic insights for this pedigree and contribute to the understanding of the genotype-phenotype correlation in OS.
Authors
- Duan Wang (ORCID: https://orcid.org/0000-0001-5487-4414)
- H. Steve Zhang (ORCID: https://orcid.org/0009-0001-7920-705X)
- Ying Yang (ORCID: https://orcid.org/0000-0002-8104-5985)
- Li He (ORCID: https://orcid.org/0000-0002-0968-7270)
- Yingyu Yan
- Yanni Chen (ORCID: https://orcid.org/0000-0002-0436-6937)
Institutions
- Xi’an Children’s Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2025-02-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20240905-00470
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00