AUTHOR=Zhang Xuan , Lu Hongjuan , Ji Yichen , Sun Wei 

TITLE=Case report: Novel deletions in the 6p21.33 involving the CSNK2B gene in patients with Poirier-Bienvenu neurodevelopmental syndrome and literature review

JOURNAL=Frontiers in Medicine

VOLUME=11

YEAR=2024

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2024.1441573

DOI=10.3389/fmed.2024.1441573

ISSN=2296-858X

ABSTRACT=<sec><title>Background</title><p>Seizures have been identified in most patients with <italic>CSNK2B</italic>-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.</p></sec><sec><title>Case summary</title><p>We report two new Chinese patients with varying sizes of 6p21.33 deletions encompassing the <italic>CSNK2B</italic> gene who presented with intellectual disability and seizures. Furthermore, we conducted a literature review of previously reported patients with 6p21.33 deletions or <italic>CSNK2B</italic> 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 <italic>CSNK2B</italic> variants is severely underestimated. One of our patients underwent a long follow-up period and presented with comprehensive disease progression.</p></sec><sec><title>Conclusion</title><p>Our data suggest that the <italic>CSNK2B</italic> variant or 6p21.33 deletion should be considered in patients with intellectual disability and epilepsy, especially those characterized by biphasic patterns and digital anomalies.</p></sec>