Cited by 243Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

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Boccuto, Luigi, Lauri, Maria, Sarasua, Sara M, Skinner, Cindy D, Buccella, Daniela, Dwivedi, Alka, Orteschi, Daniela, Collins, Julianne S, Zollino, Marcella, Visconti, Paola, DuPont, Barb, Tiziano, Danilo, Schroer, Richard J, Neri, Giovanni, Stevenson, Roger E, Gurrieri, Fiorella, Schwartz, Charles E·2013·European Journal of Human Genetics

DOI 10.1038/ejhg.2012.175PMC PMC3573207

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Abstract

Autism spectrum disorders (ASDs) include three main conditions: autistic disorder (AD), pervasive developmental disorder, not otherwise specified (PDD-NOS), and Asperger syndrome. It has been shown that many genes associated with ASDs are involved in the neuroligin-neurexin interaction at the glutamate synapse: NLGN3, NLGN4, NRXN1, CNTNAP2, and SHANK3. We screened this last gene in two cohorts of ASD patients (133 patients from US and 88 from Italy). We found 5/221 (2.3%) cases with pathogenic alterations: a 106 kb deletion encompassing the SHANK3 gene, two frameshift mutations leading to premature stop codons, a missense mutation (p.Pro141Ala), and a splicing mutation (c.1820-4 G>A). Additionally, in 17 patients (7.7%) we detected a c.1304+48C>T transition affecting a methylated cytosine in a CpG island. This variant is reported as SNP rs76224556 and was found in both US and Italian controls, but it results significantly more frequent in our cases than in the control cohorts. The variant is also significantly more common among PDD-NOS cases than in AD cases. We also screened this gene in an independent replication cohort of 104 US patients with ASDs, in which we found a missense mutation (p.Ala1468Ser) in 1 patient (0.9%), and in 8 patients (7.7%) we detected the c.1304+48C>T transition. While SHANK3 variants are present in any ASD subtype, the SNP rs76224556 appears to be significantly associated with PDD-NOS cases. This represents the first evidence of a genotype-phenotype correlation in ASDs and highlights the importance of a detailed clinical-neuropsychiatric evaluation for the effective genetic screening of ASD patients.

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Authors: Boccuto, L., Lauri, M., Sarasua, S. M., Skinner, C. D., Buccella, D., Dwivedi, A., Orteschi, D., Collins, J. S., Zollino, M., Visconti, P., DuPont, B., Tiziano, D., Schroer, R. J., Neri, G., Stevenson, R. E., Gurrieri, F., & Schwartz, C. E.
Affiliations: Greenwood Genetic Center (US)
Università Cattolica del Sacro Cuore (IT)
Ospedale Maggiore Carlo Alberto Pizzardi (IT)
Corresponding author: Schwartz, Charles E
ORCID: Boccuto, Luigi
Sarasua, Sara M
Skinner, Cindy D
Dwivedi, Alka
Zollino, Marcella
Visconti, Paola
Neri, Giovanni
Stevenson, Roger E
Gurrieri, Fiorella
Schwartz, Charles E
Venue: European Journal of Human Genetics
Publisher: Springer Science and Business Media LLC
Published: 2012-08-15
Volume: 21
Issue: 3
Pages: 310-316
ISSN: 1018-4813 (ISSN-L)
1476-5438
DOI: 10.1038/ejhg.2012.175
PMC: PMC3573207
OpenAlex: W2016364319
Cited by: 240
References: 51
Citations by year: 2026: 7 · 2025: 13 · 2024: 20 · 2023: 21 · 2022: 18 · 2021: 21 · 2020: 22 · 2019: 13 · 2018: 23 · 2017: 16 · 2016: 13 · 2015: 18 · 2014: 21 · 2013: 14
FWCI: 8.69
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.springer.com/tdm (tdm)
Locations: European Journal of Human Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health (5r01hd026202-15)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01-HD026202, HD 26202)
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: SHANK3, autism spectrum disorder, pervasive developmental disorder not otherwise specified, autistic disorder, Asperger syndrome, genotype-phenotype correlation, frameshift mutation, missense mutations, splicing mutation, CpG island methylation, genetic screening
MeSH terms: Child, Child Development Disorders, Pervasive, Cytosine, Female, Humans, Italy, Male, Mutation, Nerve Tissue Proteins, South Carolina, Cohort Studies, Gene Deletion, CpG Islands, Polymorphism, Single Nucleotide, Asperger Syndrome, Genetic Association Studies

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Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

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