Splicing Interruption by Intron Variants in CSNK2B Causes Poirier-Bienvenu Neurodevelopmental Syndrome: A Focus on Genotype-Phenotype Correlations.

ABSTRACT: CSNK2B has recently been identified as the causative gene for Poirier-Bienvenu neurodevelopmental syndrome (POBINDS). POBINDS is a rare neurodevelopmental disorder characterized by early-onset epilepsy, developmental delay, hypotonia, and dysmorphism. Limited by the scarcity of patients, the genotype-phenotype correlations in POBINDS are still unclear. In the present study, we describe the clinical and genetic characteristics of eight individuals with POBINDS, most of whom suffered developmental delay, generalized epilepsy, and hypotonia. Minigene experiments confirmed that two intron variants (c.367+5G>A and c.367+6T>C) resulted in the skipping of exon 5, leading to a premature termination of mRNA transcription. Combining our data with the available literature, the types of POBINDS

SUBMITTER: Zhang W 

PROVIDER: S-EPMC9237577 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature