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

Author:

Granocchio Elisa1,Pollina Eleonora2,De Salvatore Marinella1,Scopelliti Maria R.1,Tanzi Giorgia2,Sciacca Francesca L.3,D’Arrigo Stefano1,Ciaccio Claudia1

Affiliation:

1. Department of Pediatric Neuroscience, Foundation I.R.C.C.S. Istituto Neurologico Carlo Besta

2. Università degli Studi

3. Laboratory of Cytogenetic, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

Abstract

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.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Biological Psychiatry,Psychiatry and Mental health,Genetics (clinical),Genetics

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