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CASE REPORT article

Front. Med.
Sec. Gene and Cell Therapy
Volume 11 - 2024 | doi: 10.3389/fmed.2024.1441573

Novel deletions in the 6p21.33 involving the CSNK2B gene in patients with Poirer-Bienvenu Neurodevelopmental Syndrome and literature review

Provisionally accepted
Xuan Zhang Xuan Zhang Lu Hong Juan Lu Hong Juan Yichen Ji Yichen Ji *Wei Sun Wei Sun *
  • Xuanwu Hospital, Capital Medical University, Beijing, China

The final, formatted version of the article will be published soon.

    Seizures have been identified in most patients with CSNK2B-related Poirer-Bienvenu Neurodevelopment syndrome (POBINDS). Detailed descriptions of seizure phenotypes, various genotypes, and long-term follow-up visits are required for clinicians to provide reasonable clinical management for such patients.We report two new Chinese patients with varying sizes of 6p21.33 deletions encompassing the CSNK2B gene who presented with intellectual disability and seizures. Furthermore, we conducted a literature review of previously reported patients with 6p21.33 deletions or CSNK2B variants. We summarized and analyzed the clinical characteristics of these patients with seizures. The occurrence of a biphasic pattern of epilepsy and pharmacoresistant epilepsy in patients with CSNK2B variants is severely underestimated. One of our patients underwent a long follow-up period and presented with comprehensive disease progression.Our data suggest that the CSNK2B variant or 6p21.33 deletion should be considered in patients with intellectual disability and epilepsy, especially those characterized by biphasic patterns and digital anomalies.

    Keywords: 6p21.33 deletion, CNSK2B, POBINDS, Epilepsy, biphasic patterns, digital anomalies

    Received: 31 May 2024; Accepted: 09 Sep 2024.

    Copyright: © 2024 Zhang, Hong Juan, Ji and Sun. 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:
    Yichen Ji, Xuanwu Hospital, Capital Medical University, Beijing, China
    Wei Sun, Xuanwu Hospital, Capital Medical University, Beijing, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.