Genetic analysis and literature review of a Poirier –Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B

ConclusionA rare case of POBINDS caused by a novel frameshift variant inCSNK2B was diagnosed. The novel variant extends the variation spectrum ofCSNK2B, which provides guidance for early clinical diagnosis, genetic counseling and treatment of this family. A review of the currently reported cases of POBINDS further enriches and summarizes the relationship between genotype and phenotype of POBINDS.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research