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Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
Open accessAbstract
Methods : The 22q13 deletion syndrome (MIM 606232) is characterised by moderate to profound mental retardation, delay/absence of expressive speech, hypotonia, normal to accelerated growth, and mild dysmorphic features. We have determined the deletion size and parent of origin in 56 patients with this syndrome. Results: Similar to other terminal deletion syndromes, there was an overabundance of paternal deletions. The deletions vary widely in size, from 130 kb to over 9 Mb; however all 45 cases that could be specifically tested for the terminal region at the site of SHANK3 were deleted for this gene. The molecular structure of SHANK3 was further characterised. Comparison of clinical features to deletion size showed few correlations. Some measures of developmental assessment did correlate to deletion size; however, all patients showed some degree of mental retardation and severe delay or absence of expressive speech, regardless of deletion size. Conclusion : Our analysis therefore supports haploinsufficiency of the gene SHANK3 , which codes for a structural protein of the postsynaptic density, as a major causative factor in the neurological symptoms of 22q13 deletion syndrome.
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“Disruption of Shank3 is thought to be the cause of core neurodevelopmental and neurobehavioural deficits in the 22q13 deletion syndrome (Phelan-McDermid syndrome), an autism spectrum disorder9–11.”
From Shank3 mutant mice display autistic-like behaviours and striatal dysfunction (2011) · cites this paper as [11]
In the citing paper
“Loss of a functional copy of the SHANK3 gene leads to the neurobehavioral manifestations of 22q13 deletion syndrome and/or to autism spectrum disorders.”
From Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication (2010) · cites this paper as [22]
In the citing paper
“Deletions involving entire SHANK family genes in ASD predict that haploinsufficiency is the primary mechanism underlying ASD pathogenesis (Wilson et al., 2003).”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Wilson et al., 2003
In the citing paper
“SHANK3 maps to the critical region of 22q13.3 deletion syndrome (Phelan-McDermid syndrome, PMS) (Figure 1A) (Wilson et al., 2003).”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Wilson et al., 2003
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Metadata
- Authors
- Wilson, H. L., Wong, A. C. C., Shaw, S. R., Tse, W.-Y., Stapleton, G. A., Phelan, M. C., Hu, S., Marshall, J., & McDermid, H. E.
- Affiliations
- University of Alberta (CA)
- Greenville Children's Hospital (US)
- Greenwood Genetic Center (US)
- Children’s Hospital at Erlanger (US)
- Corresponding author
- McDermid, H E
- ORCID
- Wilson, H L
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2003-08
- Volume
- 40
- Issue
- 8
- Pages
- 575-584
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC1735560
- OpenAlex
- W2172267891
- Cited by
- 377
- References
- 62
- Citations by year
- 2026: 10 · 2025: 8 · 2024: 6 · 2023: 18 · 2022: 20 · 2021: 23 · 2020: 18 · 2019: 16 · 2018: 17 · 2017: 18 · 2016: 20 · 2015: 16 · 2014: 18 · 2013: 24 · 2012: 20
- FWCI
- 5.28
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Medical Research Council Canada
- Canadian Institutes of Health Research
- Medical Research Council
- 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
- 22q13 deletion syndrome, SHANK3, haploinsufficiency, paternal uniparental disomy, deletion size, intellectual disability, speech delay, postsynaptic density, parent of origin
- MeSH terms
- Base Sequence, Carrier Proteins, Developmental Disabilities, Chromosome Deletion, Chromosome Mapping, Chromosomes, Human, Pair 22, Female, Haplotypes, Humans, Infant, Language Development Disorders, Male, Intellectual Disability, Molecular Sequence Data, Nerve Tissue Proteins, Patents as Topic, Phenotype, Syndrome, Cytogenetic Analysis
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