Cited by 377Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

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Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

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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·2003·Journal of Medical Genetics

DOI 10.1136/jmg.40.8.575PMC PMC1735560

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Abstract

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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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
DOI: 10.1136/jmg.40.8.575
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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Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

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