The contribution of 7q33 copy number variations for intellectual disability

• Autor(a) principal: Lopes, Fátima Daniela Teixeira
• Data de Publicação: 2018
• Outros Autores: Torres, Fátima, Lynch, Sally Ann, Jorge, Arminda, Sousa, Susana, Silva, João, Rendeiro, Paula, Tavares, Purificação, Fortuna, Ana Maria, Maciel, P.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/1822/57873
• topic: 7q33 CNVs; CALD1; AGBL3; EXOC4; CNOT4; Duplication; Ciências Médicas::Medicina Básica; Science & Technology

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.