Targeted gene under study:
RHEB (OMIM * 601293)
Abstract
The KDM5A gene was identified by the team of M.R.F. Reijnders et al. (2017) as a candidate for the ID gene. So far, in 4 patients with the RHEB variants, a clinically complex spectrum of neurodevelopmental disorders has been described: ASD, ID, seizures, hemimegalencephaly, malformation of cortical development. However, RHEB variants have not been associated with the disease entity reported in the OMIM, Orphanet databases.
We are searching for patients with monoallelic variants in the RHEB gene – especially patients with a clinical presentation of epileptic seizures.
Our aim will be expanding the phenotypic and genotypic spectrum of neurodevelopmental disorders caused by monoallelic RHEB pathogenic variants.
Coordinating clinician
Dr Malgorzata Pawlowicz – mpawlowiczconti@gmail.com
Institution
Department of Pediatric Neurogenetics and Rare Diseases, Olsztyn, Poland
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 (possible functional studies)