, Volume 19, Issue 1, pp 27–40 | Cite as

The contribution of 7q33 copy number variations for intellectual disability

  • Fátima Lopes
  • Fátima Torres
  • Sally Ann Lynch
  • Arminda Jorge
  • Susana Sousa
  • João Silva
  • Paula Rendeiro
  • Purificação Tavares
  • Ana Maria Fortuna
  • Patrícia MacielEmail author
Original Article


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.


7q33 CNVs CALD1 AGBL3 EXOC4 CNOT4 Duplication 



We would like to thank all the patients and their families for their participation in the genetic studies and for allowing this publication. We would also like to acknowledge the DECIPHER Consortium, Database of Genomic Variants, and OMIM since this study makes use of data generated by these platforms.

Author contribution

FL, FT, SS, and PR performed the molecular studies and analyzed the molecular data. AMF, SAL, AJ, and JS collected clinical data. FL, FT, and PM drafted the paper. PM obtained funding for this study. The study was performed under the direction of PM.

Funding information

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.

Compliance with ethical standards

Competing interests

The authors declare that they have no conflict of interest.

Supplementary material

10048_2017_533_MOESM1_ESM.docx (25 kb)
ESM 1 (DOCX 25 kb)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2017

Authors and Affiliations

  • Fátima Lopes
    • 1
    • 2
  • Fátima Torres
    • 3
    • 4
  • Sally Ann Lynch
    • 5
  • Arminda Jorge
    • 6
    • 7
  • Susana Sousa
    • 1
    • 2
  • João Silva
    • 8
  • Paula Rendeiro
    • 3
  • Purificação Tavares
    • 3
  • Ana Maria Fortuna
    • 8
  • Patrícia Maciel
    • 1
    • 2
    Email author
  1. 1.Life and Health Sciences Research Institute (ICVS), School of MedicineUniversity of MinhoBragaPortugal
  2. 2.ICVS/3B’s—PT Government Associate LaboratoryBraga/GuimarãesPortugal
  3. 3.CGC GeneticsPortoPortugal
  4. 4.Institute of Biomedical Sciences Abel Salazar (ICBAS)University of PortoPortoPortugal
  5. 5.Temple Street HospitalDublinIreland
  6. 6.Development Unit, Pediatrics ServiceHospital Centre of Cova da BeiraCovilhãPortugal
  7. 7.CICS—Health Sciences Research CentreUniversity of Beira InteriorCovilhãPortugal
  8. 8.Center for Medical Genetics Dr. Jacinto MagalhãesCentro Hospitalar do PortoPortoPortugal

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