Targeted syndrom under study
KDM5A (OMIM * 180202)
The KDM5A gene was identified by the team of M.H. Chahrour et al. (2020) as a candidate for the ASD gene. So far, in 9 patients with the KDM5A variants, a clinically complex spectrum of neurodevelopmental disorders has been described: ASD, ID, complete lack of speech, seizures. However, KDM5A variants have not been associated with the disease entity reported in the OMIM, Orphanet databases.
We are searching for patients with mono- and biallelic variants in the KDM5A 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 mono- and biallelic KDM5A pathogenic variants.
Dr Malgorzata Pawlowicz – firstname.lastname@example.org
Department of Pediatric Neurogenetics and Rare Diseases, Olsztyn, Poland
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: No (possible functional studies)