Novel <i>HUWE1</i> ‐Related Neurodevelopmental Disorder: Genotypic and Phenotypic Expansion
Our findings further broaden the genotypic-phenotypic spectrum of HUWE1 variants and highlight the crucial role of the HECT domain in the pathogenicity of HUWE1 gene variants. Moreover, children with HUWE1 variants exhibited certain symptoms of attention-deficit/hyperactivity disorder (ADHD), social dysfunction and abnormal chewing function, which warrant further investigation.
Authors
- R. Chen
- Jerry Zhang (ORCID: https://orcid.org/0000-0002-3920-8349)
- Yanyan Dai (ORCID: https://orcid.org/0000-0002-4337-1667)
- Dandan Wu
- Rong Li
Institutions
- Nanjing Children's Hospital (CN)
- BASIS International (United States) (US)
- Second Affiliated Hospital of Nanjing Medical University (CN)
Publication Details
- Journal
- International Journal of Developmental Neuroscience
- Published
- 2026-02-01
- DOI
- https://doi.org/10.1002/jdn.70106
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00