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© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

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.

Details

Title
Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder
Author
Doddato, Gabriella 1 ; Fabbiani, Alessandra 2 ; Scandurra, Valeria 3 ; Canitano, Roberto 3 ; Mencarelli, Maria Antonietta 4 ; Renieri, Alessandra 2   VIAFID ORCID Logo  ; Ariani, Francesca 2 

 Medical Genetics, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy; [email protected] (G.D.); [email protected] (A.F.); [email protected] (A.R.); Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy 
 Medical Genetics, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy; [email protected] (G.D.); [email protected] (A.F.); [email protected] (A.R.); Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy; [email protected] 
 Division of Child and Adolescent Neuropsychiatry, University Hospital of Siena, 53100 Siena, Italy; [email protected] (V.S.); [email protected] (R.C.) 
 Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy; [email protected] 
First page
688
Publication year
2022
Publication date
2022
Publisher
MDPI AG
e-ISSN
20734425
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2652997113
Copyright
© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.