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Peer-reviewedCC BYJournal of medical case reports

Severe neuropsychiatric manifestations in a 17-year-old male with a 20p13 interstitial deletion encompassing CSNK2A1: a case report.

  • Joern Pascal Laubach1,2
  • Daria Zeeb3
  • Stefanie Weber4
  • Katja Becker5
  • Peter Seipelt6
6 affiliations
  1. 1Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University of Marburg, Marburg, Germany. [email protected].
  2. 2Department of Pediatrics, GFO-Kliniken Bonn, St. Marienhospital Bonn, Robert-Koch-Straße 1, 53115, Bonn, Germany. [email protected].
  3. 3Center for Human Genetics Marburg, University of Marburg, Marburg, Germany.
  4. 4Department of Pediatrics, University of Marburg, Marburg, Germany.
  5. 5Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University of Marburg, Marburg, Germany.
  6. 6Pediatric Neurology, Department of Pediatrics, University of Marburg, Marburg, Germany.
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Abstract

Background

Microdeletions of 20p13 involving CSNK2A1 have rarely been reported and may be associated with an Okur-Chung neurodevelopmental syndrome compatible phenotype. Okur-Chung neurodevelopmental syndrome is a rare neurodevelopmental syndrome (OCNDS) caused by heterozygous pathogenic variants in CSNK2A1 and is characterized by a broad spectrum of symptoms including developmental delays and intellectual disability.Case presentation

This case report describes a 17-year-old male with de novo interstitial 419 kb 20p13 microdeletion involving the CSNK2A1 gene, which may represent a potential contributor to an OCNDS-compatible phenotype. In addition to rarely reported features such as intrauterine growth restriction or vesicoureteral reflux, there are pronounced psychiatric abnormalities, including a severe depressive episode with psychotic symptoms that has not previously been described in connection with Okur-Chung neurodevelopmental syndrome.Conclusion

Assuming that the CSNK2A1 deletion represents the potential contributor to the OCNDS-compatible phenotype, this case may expand the phenotypic spectrum of OCNDS and highlights the need for a better understanding of the underlying genetic mechanisms and their contribution to the clinical phenotype.

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Cite

BibTeXRIS
BibTeX
@article{laubach2026severe,
  title = {{Severe neuropsychiatric manifestations in a 17-year-old male with a 20p13 interstitial deletion encompassing CSNK2A1: a case report.}},
  author = {Joern Pascal Laubach and Daria Zeeb and Stefanie Weber and Katja Becker and Peter Seipelt},
  journal = {Journal of medical case reports},
  year = {2026},
  month = nov,
  doi = {10.1186/s13256-026-06800-7},
  url = {https://europepmc.org/article/MED/42972406},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Severe neuropsychiatric manifestations in a 17-year-old male with a 20p13 interstitial deletion encompassing CSNK2A1: a case report.
AU  - Joern Pascal Laubach
AU  - Daria Zeeb
AU  - Stefanie Weber
AU  - Katja Becker
AU  - Peter Seipelt
PY  - 2026
DA  - 2026/11/02
JO  - Journal of medical case reports
DO  - 10.1186/s13256-026-06800-7
UR  - https://europepmc.org/article/MED/42972406
AB  - Background  Microdeletions of 20p13 involving CSNK2A1 have rarely been reported and may be associated with an Okur-Chung neurodevelopmental syndrome compatible phenotype. Okur-Chung neurodevelopmental syndrome is a rare neurodevelopmental syndrome (OCNDS) caused by heterozygous pathogenic variants in CSNK2A1 and is characterized by a broad spectrum of symptoms including developmental delays and intellectual disability.Case presentation  This case report describes a 17-year-old male with de novo interstitial 419 kb 20p13 microdeletion involving the CSNK2A1 gene, which may represent a potential contributor to an OCNDS-compatible phenotype. In addition to rarely reported features such as intrauterine growth restriction or vesicoureteral reflux, there are pronounced psychiatric abnormalities, including a severe depressive episode with psychotic symptoms that has not previously been described in connection with Okur-Chung neurodevelopmental syndrome.Conclusion  Assuming that the CSNK2A1 deletion represents the potential contributor to the OCNDS-compatible phenotype, this case may expand the phenotypic spectrum of OCNDS and highlights the need for a better understanding of the underlying genetic mechanisms and their contribution to the clinical phenotype.
SN  - 1752-1947
ER  -