Genotype-phenotype correlations and putative modifier genes in SYNGAP1 encephalopathy - PubMed
4 hours ago
- #SYNGAP1 Encephalopathy
- #Genotype-phenotype correlation
- #Neurodevelopmental disorder
- SynGAP is crucial for synaptic plasticity, neurodevelopment, and neuronal circuit function.
- De novo pathogenic variants in SYNGAP1 cause SYNGAP1 Encephalopathy, a rare neurodevelopmental disorder.
- The disorder is characterized by intellectual disability, epilepsy, and autistic traits.
- A study of 44 cases identified four new likely pathogenic SYNGAP1 variants.
- Variants in the PH domain of SynGAP are linked to milder phenotypes.
- Rare or low-frequency variants in SYNGAP1-related genes correlate with higher disease severity.
- Genotype-phenotype correlations suggest variant location and modifier genes influence clinical variability.
- Larger studies and functional validation are needed for personalized management strategies.