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Case Reports
. 2025 May 19:16:1595298.
doi: 10.3389/fgene.2025.1595298. eCollection 2025.

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

Angela Krutish  1   2   3 , Rebekah Kukurudz-Gorowski  1   2   3 , Felippe Borlot  4 , Patrick Frosk  1   2   3 , Cheryl Rockman-Greenberg  1   2   3 , Aizeddin A Mhanni  1   2   3
Affiliations
Case Reports

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

Angela Krutish et al. Front Genet. .

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.

Keywords: ATR-16 syndrome; case report; chromosome 16p; cognitive decline; dementia.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The authors declare that this study received in-kind contributions from Discovery DNA, Inc. The funder had the following involvement in the study: study design, data collection, and interpretation of data. The funder was not involved in the writing of this article or the decision to submit it for publication.

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