[Clinical and genetic analysis of a child with Lamb-Shaffer syndrome due to a de novo variant of SOX5 gene].
The c.1828_1829insGACT (p.Y610fs*1) variant of the SOX5 gene probably underlay the pathogenesis of LAMSHF in this child. For children with delayed mental, language, intellectual, and motor development, genetic testing should be conducted to facilitate early diagnosis. Above finding has enriched the mutational spectrum of the SOX5 gene.
Authors
- Linfei Li (ORCID: https://orcid.org/0000-0002-5217-3005)
- Jianwei Yang (ORCID: https://orcid.org/0000-0003-2536-2334)
- Junmei Yang (ORCID: https://orcid.org/0000-0003-4442-5580)
- Yongxing Chen (ORCID: https://orcid.org/0000-0002-0020-1588)
- Liming Zhang (ORCID: https://orcid.org/0000-0002-4657-3870)
- Hongqi Sun
- Liye Shi (ORCID: https://orcid.org/0000-0002-1853-3812)
Institutions
- Zhengzhou Children's Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2025-01-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20240904-00469
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00