De novo missense mutation in MYT1l leading to autosomal dominant intellectual disability 39 and autism spectrum disorder: a case report
We report a case of <i>MYT1l</i>-related disorder presenting with global developmental delay and features of autism spectrum disorder, associated with the previously documented but functionally uncharacterized c.1695G > T (p.Arg565Ser) variant. This case provides valuable clinical evidence supporting the pathogenicity of this variant and contributes to a deeper understanding of the phenotypic spectrum of <i>MYT1l</i>-related conditions.
Authors
- Wanqi Wang (ORCID: https://orcid.org/0000-0001-7424-9165)
- Kai Jiang (ORCID: https://orcid.org/0000-0001-9795-9290)
- Xin Wang (ORCID: https://orcid.org/0000-0003-2605-5504)
- Yang Chen (ORCID: https://orcid.org/0000-0002-1001-062X)
- Xiaoyu Sun (ORCID: https://orcid.org/0000-0001-7076-5648)
- Shuang-Zhu Lin (ORCID: https://orcid.org/0000-0001-5333-2138)
- Yangfan Qi
Institutions
- Changchun University of Chinese Medicine (CN)
- Changchun Children's Hospital (CN)
- The Affiliated Hospital to Changchun University of Chinese Medicine (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-10-23
- DOI
- https://doi.org/10.3389/fped.2025.1672911
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00