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Title: Genomic imbalances defining novel intellectual disability associated loci
Authors: Lopes, Fátima 
Torres, Fátima
Soares, Gabriela
Barbosa, Mafalda
Silva, João
Duque, Frederico 
Rocha, Miguel 
Sá, Joaquim 
Oliveira, Guiomar 
Sá, Maria João 
Temudo, Teresa
Sousa, Susana
Marques, Carla
Lopes, Sofia Maia 
Gomes, Catarina
Barros, Gisela
Jorge, Arminda
Rocha, Felisbela
Martins, Cecília
Mesquita, Sandra
Loureiro, Susana
Cardoso, Elisa Maria
Cálix, Maria José
Dias, Andreia
Martins, Cristina
Mota, Céu R.
Antunes, Diana 
Dupont, Juliette
Figueiredo, Sara
Figueiroa, Sónia
Gama-de-Sousa, Susana
Cruz, Sara
Sampaio, Adriana 
Eijk, Paul
Weiss, Marjan M.
Ylstra, Bauke
Rendeiro, Paula
Tavares, Purificação
Reis-Lima, Margarida
Pinto-Basto, Jorge
Fortuna, Ana Maria
Maciel, Patrícia 
Keywords: CNVs; CUL4B overexpression; Genotype-phenotype correlation; Neurodevelopment
Issue Date: 5-Jul-2019
Publisher: Springer Nature
Project: This work has been funded by FEDER funds, through the Competitiveness Factors Operational Programme (COMPETE), and by National funds, through the Foundation for Science and Technology (FCT), under the scope of the projects: PIC/IC/83026/2007, PIC/IC/83013/2007 and POCI-01-0145-FEDER- 007038. This work has also been funded by the project NORTE-01-0145- FEDER-000013, supported by the Northern Portugal Regional Operational Programme (NORTE 2020), under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund (FEDER). FL was supported by Foundation for Science and Technology (FCT) through the fellowship SFRH/BD/90167/2012. 
Serial title, monograph or event: Orphanet Journal of Rare Diseases
Volume: 14
Issue: 1
Abstract: Background: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a cohort of 325 Portuguese patients with intellectual disability (ID). Results: We have detected CNVs in 30.1% of the patients, of which 5.2% corresponded to novel likely pathogenic CNVs. For these 11 rare CNVs (which encompass novel ID candidate genes), we identified those most likely to be relevant, and established genotype-phenotype correlations based on detailed clinical assessment. In the case of duplications, we performed expression analysis to assess the impact of the rearrangement. Interestingly, these novel candidate genes belong to known ID-related pathways. Within the 8% of patients with CNVs in known pathogenic loci, the majority had a clinical presentation fitting the phenotype(s) described in the literature, with a few interesting exceptions that are discussed. Conclusions: Identification of such rare CNVs (some of which reported for the first time in ID patients/families) contributes to our understanding of the etiology of ID and for the ever-improving diagnosis of this group of patients.
ISSN: 1750-1172
DOI: 10.1186/s13023-019-1135-0
Rights: openAccess
Appears in Collections:FMUC Medicina - Artigos em Revistas Internacionais
I&D IBILI - Artigos em Revistas Internacionais

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