Genetic analysis of four cases of Poirier Bienvenu neurodevelopmental syndrome associated with CSNK2B variant.

ABSTRACT:

Background

CSNK2B deficiency underlies the pathogenesis of Poirier-Bienvenu neurodevelopmental syndrome (POBINDS). In this study, we present four cases of pediatric seizures caused by de novo variants in CSNK2B, with the aim to reinforce the clinical and variant data pertaining to early genetic factors associated with epilepsy.

Methods

Trio whole exome sequencing were used to detect variants in the proband and her family members, and bioinformatics annotation was performed for the variant. Sanger sequencing and CSNK2B cDNA sequencing were employed to ascertain the carrier status of additional family members and evaluate the potential impact of variants on splicing.

Results

All four cases presented with epilepsy as the initial manifestation, accompanied by global devel

SUBMITTER: Yang L 

PROVIDER: S-EPMC11983931 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature