Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium

Eur J Med Genet. 2020 Dec;63(12):104093. doi: 10.1016/j.ejmg.2020.104093. Epub 2020 Nov 5.


Background: Several rare copy number variants have been identified to confer risk for neurodevelopmental disorders (NDD-CNVs), and increasingly NDD-CNVs are being identified in patients. There is a clinical need to understand the phenotypes of NDD-CNVs. However due to rarity of NDD-CNVs in the population, within individual countries there is a limited number of NDD-CNV carriers who can participate in research. The pan-european MINDDS (Maximizing Impact of Research in Neurodevelopmental Disorders) consortium was established in part to address this issue.

Methodology: A survey was developed to scope out the current landscape of NDD-CNV research across member countries of the MINDDS consortium, and to identify clinical cohorts with potential for future research.

Results: 36 centres from across 16 countries completed the survey. We provide a list of centres who can be contacted for future collaborations. 3844 NDD-CNV carriers were identified across clinical and research centres spanning a range of medical specialties, including psychiatry, paediatrics, medical genetics. A broad range of phenotypic data was available; including medical history, developmental history, family history and anthropometric data. In 12/16 countries, over 75% of NDD-CNV carriers could be recontacted for future studies.

Conclusion: This survey has highlighted the potential within Europe for large multi-centre studies of NDD-CNV carriers, to improve knowledge of the complex relationship between NDD-CNV and clinical phenotype. The MINNDS consortium is in a position to facilitate collaboration, data-sharing and knowledge exchange on NDD-CNV phenotypes across Europe.

Keywords: Copy number variants; European; Medical genetics; Neurodevelopmental disorders; Psychiatric genetics; Research collaboration.

MeSH terms

  • DNA Copy Number Variations*
  • Databases, Genetic*
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics*
  • Europe
  • Gene Frequency
  • Genetic Testing / methods
  • Genetic Testing / statistics & numerical data*
  • Genome-Wide Association Study / methods
  • Genome-Wide Association Study / statistics & numerical data
  • Humans
  • Information Dissemination*
  • Phenotype