Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder Article Swipe
Gabriella Doddato
,
Alessandra Fabbiani
,
Valeria Scandurra
,
Roberto Canitano
,
Maria Antonietta Mencarelli
,
Alessandra Renieri
,
Francesca Ariani
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.3390/genes13040688
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.3390/genes13040688
Genetic defects in the SHANK2 gene, encoding for synaptic scaffolding protein, are associated with a variety of neurodevelopmental conditions, including autism spectrum disorders and mild to moderate intellectual disability. Until now, limited patient clinical descriptions have been published. Only 13 unrelated patients with SHANK2 pathogenic variations or microdeletions have been reported worldwide. By Exome Sequencing, we identified a de novo stop-gain variant, c.334C>T, p.(Gln112*), in an Italian patient with a neurodevelopmental disorder. The patient (9 years old) presented the following facial features: a flat profile, thick eyebrows, long eyelashes, a bulbous nasal tip and a prominent columella, retracted ears, dental anomalies. The patient showed speech delay and mild neuromotor delay but not autism spectrum disorder. In conclusion, this patient with a novel pathogenic variant in SHANK2 enlarges the phenotypic spectrum of SHANK2-mutated patients and demonstrates that the severity of SHANK2-associated disorders is highly variable.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/genes13040688
- https://www.mdpi.com/2073-4425/13/4/688/pdf?version=1649910618
- OA Status
- gold
- Cited By
- 11
- References
- 35
- Related Works
- 10
- OpenAlex ID
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All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W4223894544Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3390/genes13040688Digital Object Identifier
- Title
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Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental DisorderWork title
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2022Year of publication
- Publication date
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2022-04-14Full publication date if available
- Authors
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Gabriella Doddato, Alessandra Fabbiani, Valeria Scandurra, Roberto Canitano, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca ArianiList of authors in order
- Landing page
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https://doi.org/10.3390/genes13040688Publisher landing page
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https://www.mdpi.com/2073-4425/13/4/688/pdf?version=1649910618Direct link to full text PDF
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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https://www.mdpi.com/2073-4425/13/4/688/pdf?version=1649910618Direct OA link when available
- Concepts
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Identification (biology), Computational biology, Neurodevelopmental disorder, Biology, Genetics, Medicine, Gene, BotanyTop concepts (fields/topics) attached by OpenAlex
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11Total citation count in OpenAlex
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2025: 3, 2024: 1, 2023: 6, 2022: 1Per-year citation counts (last 5 years)
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10Other works algorithmically related by OpenAlex
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