Case Report: De novo variant of the NUS1 gene associated with developmental delay and autism spectrum disorders in a Chinese family
This study expands the phenotype and mutation spectrum of the <i>NUS1</i> gene, which contributes to the diagnosis of related disorders. Furthermore, the identification of the genetic basis of the proband and confirmation of the corresponding loci of his family members will facilitate the genetic counseling of the proband's parents regarding reproduction.
Authors
- Junlin Pan (ORCID: https://orcid.org/0000-0002-2683-6223)
- Shuhua Ji
- Feng Ding (ORCID: https://orcid.org/0000-0002-2758-6799)
- Ning Shi (ORCID: https://orcid.org/0000-0001-8546-3802)
- Haiping Liu (ORCID: https://orcid.org/0000-0001-7822-9487)
- Yan Zhang (ORCID: https://orcid.org/0000-0002-5644-4765)
- Jingpeng Hou (ORCID: https://orcid.org/0000-0001-5248-7103)
Institutions
- People's Liberation Army 401 Hospital (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-05-14
- DOI
- https://doi.org/10.3389/fped.2025.1557103
- Citations
- 3
- Primary Topic
- CRISPR and Genetic Engineering
- Type
- article
- Field-Weighted Citation Impact
- 2.42