A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome.

ABSTRACT:

Background

WOREE syndrome is a rare neurodevelopmental disorder featuring drug-resistant epilepsy and global developmental delay. The disease, caused by biallelic pathogenic variants in the WWOX gene, usually leads to severe disability or death within the first years of life. Clinicians have become more confident with the phenotypic picture of WOREE syndrome, allowing earlier clinical diagnosis. We report a boy with a peculiar clinic-radiological pattern supporting the diagnosis of WOREE syndrome.

Methods

DNA was extracted from blood samples of the proband and his parents and subjected to Exome Sequencing (ES). Agarose gel electrophoresis, real-time quantitative PCR (Q-PCR), and array-CGH 180K were also performed.

Results

ES detected a pathogenic stop variant (

SUBMITTER: Riva A 

PROVIDER: S-EPMC9100683 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature