CASE REPORT article
Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 13 - 2025 | doi: 10.3389/fped.2025.1583346
A Case of Poirier-Bienvenu Neurodevelopmental Syndrome Manifesting Primarily as Eyelid Myoclonia
Provisionally accepted
- Hangzhou Children’s Hospital, Zhejiang, China
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Variants in the CSNK2B gene are known to cause Poirier–Bienvenuneurodevelopmental syndrome (POBINDS). Since its first report in 2017, nearly 100cases have been documented. Epileptic seizures and intellectual disabilities are coresymptoms of POBINDS. While the CSNK2B genotype and phenotype exhibitincreasing diversity, the genotype-phenotype correlation remains unclear. In thisstudy, we identified a novel CSNK2B heterozygous mutationNM_001320.7:c.268A>C (p.Thr90Pro) in a child with Jeavons syndrome，classifiedas a likely pathogenic under ACMG guidelines . Computational analyses predictedthat the change of c.268A > C (p. Thr90Pro) might have an impact on the stability ofthe protein. This pathogenic mutation enriches the spectrum of CSNK2B genemutations and suggests that CSNK2B may be a causative gene for Jeavons syndrome.
Keywords: POBINDS, Eyelid myoclonia, CSNK2B, Jeavons syndrome, Ck2β
Received: 25 Feb 2025; Accepted: 19 Aug 2025.
Copyright: © 2025 Weng, He, Deng, Chen and Liu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Lingwei Weng, Hangzhou Children’s Hospital, Zhejiang, China
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