De novo frameshift mutation in SYNGAP1 resulting in autosomal dominant mental retardation type 5 and autism spectrum disorder: a case report
We present a case of <i>SYNGAP1</i>-related MRD5 characterized by significant global developmental delay and autism spectrum disorder, featuring a novel c.1230delC frameshift variant that has not been reported before. This discovery expands clinicians' knowledge of the mutation spectrum and phenotypic variability linked to <i>SYNGAP1</i>, enhancing understanding of genotype-phenotype relationships in <i>SYNGAP1</i>-related conditions.
Authors
- Wanqi Wang (ORCID: https://orcid.org/0000-0001-7424-9165)
- Kai Jiang (ORCID: https://orcid.org/0000-0001-9795-9290)
- Xiaoyu Sun (ORCID: https://orcid.org/0000-0001-7076-5648)
- Hongyan Xie
- 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
- 2025-10-20
- DOI
- https://doi.org/10.3389/fped.2025.1671464
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00