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Case Reports: Rare disease
Global developmental delay and a de novo deletion of the 16p13.13 region
  1. Aneta Krakowski1,2,
  2. Ny Hoang3,4,5,6,
  3. Brett Trost5,7,
  4. Jane Summers2,5,6,
  5. Patricia Ambrozewicz5,6 and
  6. Jacob Vorstman1,2,5,6,8
  1. 1Department of Psychiatry, Hospital for Sick Children, Toronto, Ontario, Canada
  2. 2Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada
  3. 3Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
  4. 4Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada
  5. 5Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada
  6. 6Autism Research Unit, Hospital For Sick Children, Toronto, Ontario, Canada
  7. 7Molecular Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada
  8. 8The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada
  1. Correspondence to Dr Aneta Krakowski; aneta.krakowski{at}mail.utoronto.ca

Abstract

Many rare genetic variants are associated with the risk of atypical neurodevelopmental trajectories. In this study, we report a patient with developmental delay, autistic traits and multiple congenital anomalies, including congenital heart anomalies and orofacial cleft, with a 0.832 Mb de novo deletion of the 16p13.13 region classified as a variant of uncertain significance. Comparison of similar sized deletions and duplications overlapping the same genes in the DECIPHER database, revealed seven reports of copy number variants (CNVs), four duplications and three deletions. A neurodevelopmental phenotype including learning disability and intellectual disability was noted in some of the DECIPHER entries where phenotype was provided. Although the association between a deletion in this region and an atypical neurodevelopmental trajectory remains to be elucidated, the overlapping CNVs with neurodevelopmental phenotypes suggests possible candidate genes within the 16p13.13 region.

  • Genetics
  • Child and adolescent psychiatry

https://doi.org/10.1136/bcr-2022-251521

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    Footnotes

    • Contributors AK, JV, BT, NH, JS and PA were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content. AK, JV, BT, NH, JS and PA gave final approval of the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests JV serves as a consultant for NoBias Therapeutics.

    • Provenance and peer review Not commissioned; externally peer reviewed.