{
  "abstract": "Background\n\nMicrodeletions 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\n\nThis 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\n\nAssuming 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.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University of Marburg, Marburg, Germany. joernpascal.laubach@gfo-kliniken-bonn.de.",
    "Department of Pediatrics, GFO-Kliniken Bonn, St. Marienhospital Bonn, Robert-Koch-Straße 1, 53115, Bonn, Germany. joernpascal.laubach@gfo-kliniken-bonn.de.",
    "Center for Human Genetics Marburg, University of Marburg, Marburg, Germany.",
    "Department of Pediatrics, University of Marburg, Marburg, Germany.",
    "Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University of Marburg, Marburg, Germany.",
    "Pediatric Neurology, Department of Pediatrics, University of Marburg, Marburg, Germany."
  ],
  "article_type": "case report",
  "arxiv": null,
  "author_total": 5,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Joern Pascal Laubach",
      "orcid": "0009-0004-3874-3798"
    },
    {
      "affs": [
        2
      ],
      "name": "Daria Zeeb",
      "orcid": "0009-0009-7391-3517"
    },
    {
      "affs": [
        3
      ],
      "name": "Stefanie Weber",
      "orcid": "0000-0002-9498-2337"
    },
    {
      "affs": [
        4
      ],
      "name": "Katja Becker",
      "orcid": "0000-0003-4858-5127"
    },
    {
      "affs": [
        5
      ],
      "name": "Peter Seipelt"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/3t8p5fckawvnr.bib",
  "cited_by": 0,
  "doi": "10.1186/s13256-026-06800-7",
  "fulltext_url": "https://europepmc.org/articles/PMC13729681",
  "id": "3t8p5fckawvnr",
  "issns": [
    "1752-1947"
  ],
  "landing_url": "https://europepmc.org/article/MED/42972406",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Case Report"
    ],
    [
      "openalex",
      "1311|Genomic variations and chromosomal abnormalities"
    ]
  ],
  "openalex": "W7225108893",
  "pdf_url": "https://europepmc.org/articles/PMC13729681?pdf=render",
  "pmcid": "PMC13729681",
  "pmid": "42972406",
  "published": "2026-11-02",
  "publisher": "BMC",
  "ris": "https://research.draconitic.com/paper/3t8p5fckawvnr.ris",
  "sources": [
    {
      "first_seen": "2026-11-04T15:20:47Z",
      "native_id": "MED:42972406",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42972406"
    },
    {
      "first_seen": "2026-11-07T12:22:26Z",
      "native_id": "PMC13729681",
      "source": "pmc",
      "url": "https://doi.org/10.1186/s13256-026-06800-7"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Genomic variations and chromosomal abnormalities",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Severe neuropsychiatric manifestations in a 17-year-old male with a 20p13 interstitial deletion encompassing CSNK2A1: a case report.",
  "title_text": "Severe neuropsychiatric manifestations in a 17-year-old male with a 20p13 interstitial deletion encompassing CSNK2A1: a case report.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-07T12:22:26Z",
  "url": "https://research.draconitic.com/paper/3t8p5fckawvnr",
  "venue": "Journal of medical case reports",
  "versions": []
}