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Publications

Case Reports Journal Article Epublish

PubMed: 40458561 DOI: 10.3389/fgene.2025.1595298

Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report.

Front Genet 16:1595298

Authors: Angela Krutish, Rebekah Kukurudz-Gorowski, Felippe Borlot, Patrick Frosk, Cheryl Rockman-Greenberg, Aizeddin A Mhanni

Affiliations

  • Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, MB, Canada.
  • Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.
  • Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada.
  • Department of Clinical Neurosciences, University of Calgary, Calgary, AB, Canada.

Abstract

Background

Chromosome 16p13.3 deletions cause a contiguous gene deletion syndrome, ATR-16 syndrome. The classic phenotype of ATR-16 syndrome includes either alpha-thalassemia trait or hemoglobin H disease and intellectual disability; however, considerable variable expressivity has been reported with some patients having only an alpha-thalassemia disorder and others exhibiting a more severe phenotype with additional features.

Case presentation

We describe an adult male with ATR-16 syndrome (due to an unbalanced de novo translocation involving chromosomes 11p15.5 and 16p13.3) who developed cognitive decline and increasing dyskinetic movements in his late twenties. Biochemical investigations and exome sequencing did not elucidate an alternative explanation for this decline. Furthermore, neither the deletion on chromosome 16 nor the duplication on chromosome 11 encompassed genes that could explain the decline.

Conclusion

While cognitive decline has not been previously reported in ATR-16 syndrome, this may be another feature of the condition that is subject to variable expressivity. Taking this together with the apparent increased prevalence of dementia in other neurodevelopmental conditions, we hypothesize that individuals with ATR-16 syndrome may be predisposed to early cognitive decline.

MeSH

Genes, Dementia, Phenotype, Alpha-Thalassemia, Cognitive Dysfunction, Thalassemia, Chromosomes