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19.12.2017 | Original Article

The contribution of 7q33 copy number variations for intellectual disability

verfasst von: Fátima Lopes, Fátima Torres, Sally Ann Lynch, Arminda Jorge, Susana Sousa, João Silva, Paula Rendeiro, Purificação Tavares, Ana Maria Fortuna, Patrícia Maciel

Erschienen in: Neurogenetics | Ausgabe 1/2018

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Abstract

Copy number variations (CNVs) at the 7q33 cytoband are very rarely described in the literature, and almost all of the cases comprise large deletions affecting more than just the q33 segment. We report seven patients (two families with two siblings and their affected mother and one unrelated patient) with neurodevelopmental delay associated with CNVs in 7q33 alone. All the patients presented mild to moderate intellectual disability (ID), dysmorphic features, and a behavioral phenotype characterized by aggressiveness and disinhibition. One family presents a small duplication in cis affecting CALD1 and AGBL3 genes, while the other four patients carry two larger deletions encompassing EXOC4, CALD1, AGBL3, and CNOT4. This work helps to refine the phenotype and narrow the minimal critical region involved in 7q33 CNVs. Comparison with similar cases and functional studies should help us clarify the relevance of the deleted genes for ID and behavioral alterations.

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Titel: The contribution of 7q33 copy number variations for intellectual disability
verfasst von: Fátima Lopes
Fátima Torres
Sally Ann Lynch
Arminda Jorge
Susana Sousa
João Silva
Paula Rendeiro
Purificação Tavares
Ana Maria Fortuna
Patrícia Maciel
Publikationsdatum: 19.12.2017
Verlag: Springer Berlin Heidelberg
Erschienen in: Neurogenetics / Ausgabe 1/2018
Print ISSN: 1364-6745
Elektronische ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-017-0533-5

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The contribution of 7q33 copy number variations for intellectual disability

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