Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development
Abstract
The 22q13.3 deletion syndrome is characterized by a significant delay in language development, mental retardation, hypotonia, and autistic features. Cumulative evidence has shown that haploinsufficiency of the SHANK3 gene is a major cause of the neurological symptoms of the 22q13.3 deletion syndrome. Shank3, a multidomain protein containing the SH3 and PDZ domains, is thought to play an important role in the formation and function of synapses in the developing brain. In this study, we analyzed the SHANK3 gene in 128 autistic patients with manifestations similar to those seen in the 22q13.3 deletion syndrome. The results showed a 6-amino acid deletion upstream of the SH3 domain, a missense variant (arginine to histidine at amino acid position 656) in the PDZ domain, and the insertion or deletion of a repeated 10-bp GC sequence located 9-bp downstream from the 3' end of exon 11. None of these variants was found in 228 controls.
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Mutations in SH3 and PDZ domains are missense in humans, whereas mouse Δex11 and Δex13-16 are exon deletion and frame shift mutations.
“Mutations in the SH3 and PDZ domains are missense mutations in humans (Boccuto et al., 2012; Waga et al., 2011), but mouse mutation of Δex11 and Δex13-16 are exon deletion and frame shift mutations (Peca et al., 2011; Schmeisser et al., 2012).”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Waga et al., 2011
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Modeling Autism by SHANK Gene Mutations in Mice
Jiang, Y.-H., & Ehlers, M. D. (2013) · Neuron · doi:10.1016/j.neuron.2013.03.016 · Cited by 488 · see citing works
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Guilmatre, A., Huguet, G., Delorme, R., & Bourgeron, T. (2014) · Developmental Neurobiology · doi:10.1002/dneu.22128 · Cited by 237 · see citing works
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
Boccuto, L., Lauri, M., Sarasua, S. M., Skinner, C. D., Buccella, D., Dwivedi, A., Orteschi, D., Collins, J. S., Zollino, M., Visconti, P., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.175 · Cited by 240 · see citing works
SHANK3 as an autism spectrum disorder-associated gene
Uchino, S., & Waga, C. (2013) · Brain and Development · doi:10.1016/j.braindev.2012.05.013 · Cited by 176 · see citing works
Self-citationSantini, E., & Klann, E. (2014) · Science Signaling · doi:10.1126/scisignal.2005832 · Cited by 118 · see citing works
Wöhr, M. (2014) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2014.03.021 · Cited by 107 · see citing works
- Authors
- Waga, C., Okamoto, N., Ondo, Y., Fukumura-Kato, R., Goto, Y.-I., Kohsaka, S., & Uchino, S.
- Affiliations
- National Institute of Neuroscience (JP)
- Osaka Women's and Children's Hospital (JP)
- Corresponding author
- Kohsaka, Shinichi
- Venue
- Psychiatric Genetics
- Published
- 2011-08
- Volume
- 21
- Issue
- 4
- Pages
- 208-211
- ISSN
- 0955-8829 (ISSN-L)
- OpenAlex
- W2312526538
- Cited by
- 57
- References
- 0
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 4 · 2023: 3 · 2022: 4 · 2021: 3 · 2020: 1 · 2019: 1 · 2018: 4 · 2017: 3 · 2016: 2 · 2015: 5 · 2014: 11 · 2013: 10 · 2012: 4
- FWCI
- 4.99
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Psychiatric Genetics (publishedVersion)
- PubMed (publishedVersion)
- Institutional Repositories DataBase (IRDB) (submittedVersion)
- Funders
- Japan Society for the Promotion of Science (23791207)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- autism spectrum disorder, haploinsufficiency, speech development delay, language delay, missense mutations, SH3 domain, PDZ domain, novel variants, Japanese patients
- MeSH terms
- Amino Acid Sequence, Autistic Disorder, Base Sequence, Carrier Proteins, Child, Child, Preschool, Female, Humans, Japan, Male, Molecular Sequence Data, Nerve Tissue Proteins, Speech Disorders, Polymorphism, Single Nucleotide, Asian People
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