The diagnosis of developmental delay and autism spectrum disorder can be a complex journey for families and clinicians alike. While many factors can contribute, genetic mutations are increasingly recognized as significant contributors. A new case report published in the relevant journal sheds light on a specific genetic mutation in the SYNGAP1 gene, offering insights into the diagnosis and management of these conditions. This report underscores the role of genetic testing in identifying underlying causes and informing clinical management.
Clinical Key Takeaways
Study Snapshot
- Gene:SYNGAP1, involved in synaptic plasticity and neuronal development.
- Mutation Type:De novo frameshift mutation, leading to a non-functional protein.
- Clinical Presentation:Autosomal dominant mental retardation type 5 and autism spectrum disorder.
The autism spectrum disorder (ASD) and intellectual disability are complex neurodevelopmental conditions with heterogeneous etiologies. Identifying specific genetic causes can be challenging but crucial for appropriate management and family counseling.
Background on SYNGAP1
SYNGAP1 encodes a protein crucial for synaptic plasticity, learning, and memory. Mutations in SYNGAP1 are a known cause of autosomal dominant mental retardation type 5 (MRD5), characterized by intellectual disability, delayed speech, and often, features of autism spectrum disorder. Affected individuals may also experience seizures and other neurological symptoms.
Case Details
The case report details a patient with a de novo frameshift mutation in SYNGAP1. A de novo mutation means that the genetic mutation occurred spontaneously in the patient and was not inherited from either parent. The patient presented with significant developmental delays, intellectual disability, and features consistent with ASD. Genetic testing, specifically whole exome sequencing, revealed the previously unidentified SYNGAP1 mutation.
According to the case report, the identification of this mutation provided a definitive diagnosis, allowing for more informed management and genetic counseling for the family.
Clinical Considerations
For the general pediatrician or neurologist, this case highlights several important clinical considerations:
- When to suspect SYNGAP1: Consider SYNGAP1 mutations in patients with unexplained intellectual disability, particularly when accompanied by features of autism spectrum disorder, speech delays, and/or seizures.
- How to order genetic testing: Genetic testing, such as chromosomal microarray analysis (CMA) or whole exome sequencing (WES), can be used to identify SYNGAP1 mutations. WES is particularly useful when the clinical presentation is complex and multiple genes may be involved.
- Interpreting results: Genetic testing results should be interpreted in the context of the patient's clinical presentation and family history. A genetic counselor can assist with interpretation and counseling.
- How to counsel families: Explain the implications of a SYNGAP1 mutation, including the autosomal dominant inheritance pattern and the risk of recurrence in future pregnancies. Provide information about available resources and support groups for families affected by SYNGAP1-related disorders.
The authors emphasize the importance of early diagnosis in optimizing patient outcomes and providing appropriate support to families. Further research is needed to fully understand the phenotypic spectrum associated with SYNGAP1 mutations and to develop targeted therapies.
This case report reinforces the importance of considering genetic etiologies in patients with unexplained developmental delays and autism spectrum disorder. The identification of a de novo SYNGAP1 mutation not only provides a diagnosis but also allows for more informed management and genetic counseling. As genetic testing becomes more accessible, clinicians can play a crucial role in identifying these rare but impactful genetic causes, ultimately improving patient care and family support.
LSF-2604247680 | December 2025
Keywords
How to cite this article
Gellar S. Syngap1 mutation: a case report on autism and mental retardation. The Life Science Feed. Published February 13, 2026. Updated February 13, 2026. Accessed February 14, 2026. https://thelifesciencefeed.com/pediatrics/autism-spectrum-disorder/practice/syngap1-mutation-a-case-report-on-autism-and-mental-retardation.
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References
- Mamonas K, et al. De novo frameshift mutation in SYNGAP1 resulting in autosomal dominant mental retardation type 5 and autism spectrum disorder: a case report. J. Med. Genet. 2024; 61(3): 201-205. doi: 10.1136/jmg-2023-109288
- Berryer FH, Hamdan FF, Klitten T, et al. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy. Am J Hum Genet. 2013;92(4):489-504. doi:10.1016/j.ajhg.2013.02.014
- Holden KR, et al. SYNGAP1 encephalopathy: emerging phenotype and genotype-phenotype correlations. Neurology. 2016;86(1):35-42. doi: 10.1212/WNL.0000000000002235
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