Identification of compound heterozygous deletion of the WWOX gene in WOREE syndrome.

ABSTRACT:

Background

Biallelic loss-of-function variants in WWOX cause WWOX-related epileptic encephalopathy (WOREE syndrome), which has been reported in 60 affected individuals to date. In this study, we report on an affected individual with WOREE syndrome who presented with early-onset refractory seizures and global neurodevelopmental delay and died at the age of two and a half years.

Methods

We present clinical and molecular findings in the affected individual, including biallelic pathogenic variants in the WWOX gene. We employed different molecular approaches, such as whole exome sequencing, quantitative real-time polymerase chain reaction (qPCR), and whole-genome sequencing, to identify the genetic variants. The breakpoints were determined through gap PCR and Sanger sequencing.

SUBMITTER: Dong XS 

PROVIDER: S-EPMC10652538 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature