Genomic imbalances defining novel intellectual disability associated loci

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 n...

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2019-07, Vol.14 (1)
Main Authors: Lopes, Fátima Daniela Teixeira, 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, 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, P.
Format: Article
Language:English
Subjects:
Ciências Médicas
CNVs
CUL4B overexpression
Medicina Básica
Neurodevelopment
Science & Technology
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Summary: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). 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.
ISSN:1750-1172
DOI:10.1186/s13023-019-1135-0