22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder

Patients carrying 22q13.33 duplication present variable neurodevelopmental phenotype. Among these, patients with genetic alteration disrupting SHANK3 gene are very rare and they also present neurodevelopmental disorder such as autism spectrum disorder and intellectual disability. The real incidence...

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Bibliographic Details
Published in:	Psychiatric genetics Vol. 34; no. 1; pp. 19 - 23
Main Authors:	Granocchio, Elisa, Pollina, Eleonora, De Salvatore, Marinella, Scopelliti, Maria R, Tanzi, Giorgia, Sciacca, Francesca L, D'Arrigo, Stefano, Ciaccio, Claudia
Format:	Journal Article
Language:	English
Published:	England 01-02-2024
Subjects:	Autism Spectrum Disorder - genetics Chromosome Deletion Chromosome Disorders - genetics Chromosomes, Human, Pair 22 - genetics Female Humans Intellectual Disability - genetics Language Male Mothers Nerve Tissue Proteins - genetics Speech Sound Disorder - genetics
Online Access:	Get full text
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Summary:	Patients carrying 22q13.33 duplication present variable neurodevelopmental phenotype. Among these, patients with genetic alteration disrupting SHANK3 gene are very rare and they also present neurodevelopmental disorder such as autism spectrum disorder and intellectual disability. The real incidence is unknown because mild and variable phenotype could cause reduction in diagnosed cases. We describe the first case of 22q13.33 microduplication disrupting SHANK3 gene, inherited from mother to son, that presents a "persistent" language and speech sound disorder as main symptom without intellectual disability and autism spectrum disorder. More clinical reports with accurate phenotype description are needed to better define the profile of carriers of this genetic alteration.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0955-8829 1473-5873
DOI:	10.1097/YPG.0000000000000355