AI Article Synopsis
- Some patients have a genetic change called 22q13.33 duplication, which affects their brain development in different ways.
- A very rare case involves a gene called SHANK3 being changed, which can lead to issues like autism or learning problems.
- This report describes a boy who inherited this change from his mom and mainly has trouble with speaking, but he doesn't have autism or intellectual disability, showing that these cases can vary a lot.
Article 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.
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| http://dx.doi.org/10.1097/YPG.0000000000000355 | DOI Listing |
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