Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation
Open accessAbstract
Although autosomal forms of nonsyndromic mental retardation account for the majority of cases of mental retardation, the genes that are involved remain largely unknown. We sequenced the autosomal gene SYNGAP1, which encodes a ras GTPase-activating protein that is critical for cognition and synapse function, in 94 patients with nonsyndromic mental retardation. We identified de novo truncating mutations (K138X, R579X, and L813RfsX22) in three of these patients. In contrast, we observed no de novo or truncating mutations in SYNGAP1 in samples from 142 subjects with autism spectrum disorders, 143 subjects with schizophrenia, and 190 control subjects. These results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic mental retardation.
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The relatedness of SHANK2 to SHANK3, involvement of SYNGAP1 in intellectual disability, and interaction of DLGAP family proteins with SHANK proteins further support their role in ASDs.
“The relatedness of SHANK2 to the causal ASD gene SHANK3 (ref. 5), involvement of SYNGAP1 in intellectual disability 19 , and interaction of DLGAP family proteins with SHANK proteins 20 further support their role in ASDs.”
From Functional impact of global rare copy number variation in autism spectrum disorders (2010) · cites this paper as [19]
Autosomal dominant de novo SYNGAP1 mutations that truncate full-length protein cause sporadic ID in about 4% of screened cases.
“Recently, autosomal dominant de novo mutations in SYNGAP1 that lead to truncation of the full-length protein were reported as a cause of sporadic ID in ~4% of screened cases”
From Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine Synapses (2012) · cites this paper as Hamdan et al., 2009
All known cases of SYNGAP1 haploinsufficiency result from truncation of full-length protein.
“Indeed, all known cases of SYNGAP1 haploinsufficiency result from a truncation of the full-length protein (Hamdan et al., 2009; Hamdan et al., 2011a, Hamdan et al., 2011b)”
From Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine Synapses (2012) · cites this paper as Hamdan et al., 2009
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- Authors
- Hamdan, F. F., Gauthier, J., Spiegelman, D., Noreau, A., Yang, Y., Pellerin, S., Dobrzeniecka, S., Côté, M., Perreau-Linck, E., Carmant, L., D'Anjou, G., Fombonne, É., Addington, A. M., Rapoport, J. L., Delisi, L. E., Krebs, M.-O., Mouaffak, F., Joober, R., Mottron, L., Drapeau, P., Marineau, C., Lafrenière, R. G., Lacaille, J. C., Rouleau, G. A., & Michaud, J. L.
- Affiliations
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- Centre Hospitalier de l’Université de Montréal (CA)
- CHU Sainte-Justine Research Center (CA)
- Inserm (FR)
- National Institute of Mental Health (US)
- Nathan Kline Institute for Psychiatric Research (US)
- Douglas Mental Health University Institute (CA)
- Hôpital Rivière-des-Prairies (CA)
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2009-02-05
- Volume
- 360
- Issue
- 6
- Pages
- 599-605
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC2925262
- OpenAlex
- W1989879415
- Cited by
- 336
- References
- 25
- Citations by year
- 2026: 10 · 2025: 21 · 2024: 31 · 2023: 17 · 2022: 13 · 2021: 21 · 2020: 26 · 2019: 15 · 2018: 18 · 2017: 17 · 2016: 21 · 2015: 16 · 2014: 20 · 2013: 18 · 2012: 22
- FWCI
- 13.76
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- National Institute of Mental Health (ZIAMH002240)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- SYNGAP1, non-syndromic intellectual disability, de novo mutations, truncating mutations, GTPase-activating protein, autosomal dominant inheritance, autism spectrum disorder, schizophrenia, synaptic function, gene sequencing
- MeSH terms
- Child, Female, Heterozygote, Humans, Male, Intellectual Disability, Pedigree, Frameshift Mutation, Sequence Analysis, DNA, Codon, Nonsense, GTPase-Activating Proteins, ras GTPase-Activating Proteins
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