CSNK2B Mutation: A Rare Cause of IGHD.

ABSTRACT:

Objective

Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a rare neurodevelopmental syndrome, resulting from germline heterozygous CSNKB2 pathogenic variants. The main presentations are severe epilepsy, delayed psychomotor development, and/or profound intellectual disability. More recently, CSNK2B pathogenic variants have been reported in patients with mild intellectual disability and no history of epileptic symptoms. Short stature is present in 66% of patients, in half of these cases due to proven growth hormone deficiency.

Methods

Whole genome sequencing (WGS) was performed through a French genomic program for a patient with isolated growth hormone deficiency after negative next generation sequencing (NGS) results. NGS panel analysis of CSNK2B and genes involved

SUBMITTER: Aouchiche K 

PROVIDER: S-EPMC11874222 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature