Gene/phenotype/disorder under study
WWOX (OMIM #605131)
Abstract
WWOX-associated disorders comprise a spectrum of autosomal recessive neurodevelopmental and neurodegenerative conditions, including WWOX-related epileptic encephalopathy (WOREE) and autosomal recessive spinocerebellar ataxia type 12 (SCAR12). SCAR12 is exclusively associated with missense variants, whereas WOREE is most commonly linked to large deletions and truncating variants, although missense variants have also been reported. We are collecting pediatric patients across Europe to assess clinical features, genetic variants, and disease severity, including epilepsy, developmental delay, movement disorders, and ataxia. The primary aim is to define variant frequency, genotype-phenotype correlations, and phenotypic clusters. Based on clinical observations, the missense variants c.716T>G (p.Leu239Arg) and c.689A>C (p.Gln230Pro) may represent a potential variant cluster in certain European populations. We invite European centres to contribute cases of pediatric patients with biallelic WWOX variants to establish a pan-European cohort.
Coordinating clinicians
Gunce Basarir – guncebasarir@gmail.com
Pinar Gencpinar – pinargencpinar@gmail.com
Institutions
Department of Pediatric Neurology, University of Health Sciences, Haseki Training and Research Hospital, Istanbul, Turkiye
Department of Pediatric Neurology, İzmir Katip Çelebi University Faculty of Medicine, İzmir, Turkiye
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No