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

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.