A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation
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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 Krepischi et al., 2010
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References 7 · Cited by 34
- Authors
- Krepischi, A. C. V., Rosenberg, C., Costa, S. S., Crolla, J. A., Huang, S., & Vianna‐Morgante, A. M.
- Affiliations
- Universidade de São Paulo (BR)
- Salisbury District Hospital (GB)
- Corresponding author
- Vianna‐Morgante, Angela M.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2010-08-03
- Volume
- 152A
- Issue
- 9
- Pages
- 2376-2378
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2068957280
- Cited by
- 34
- References
- 7
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 1 · 2020: 3 · 2019: 5 · 2018: 4 · 2016: 3 · 2015: 4 · 2014: 4 · 2013: 4 · 2012: 2
- FWCI
- 1.26
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- Funders
- Fundação de Amparo à Pesquisa do Estado de São Paulo
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- 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
- Keywords
- SYNGAP1, microdeletion, chromosome 6p, intellectual disability, de novo deletion, gene deletion
- MeSH terms
- Abnormalities, Multiple, Child, Chromosomes, Human, Pair 6, DNA Mutational Analysis, Humans, Male, Intellectual Disability, Gene Deletion, ras GTPase-Activating Proteins
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