Gene/phenotype/disorder under study
OMIM #611524
Abstract
Since 2007, approximately 70 cases of patients with biallelic variants in the RARS2 gene, which encodes the mitochondrial arginyl-tRNA synthetase, have been reported. In the early years, molecular diagnoses primarily identified children with severe clinical presentations (e.g., pontocerebellar hypoplasia type 6, OMIM #611523) with multisystem involvement and early death. However, the gradual spread of next-generation sequencing (NGS) has increasingly enabled the identification of this condition in patients with milder disease forms, expanding the phenotypic spectrum to include cases of cerebellar ataxia and/or mild epilepsy, with onset even during adolescence.In light of the encouraging efforts toward the development of targeted therapies for this condition, we will try to gather patients with biallelic variants in RARS2, aiming to identify different clinical clusters across the phenotypic spectrum and gaining insights into genotype-phenotype correlations.
Coordinating clinicians
Vidal Yahya – vidal.yahya@unimi.it
Edoardo Monfrini
Institution
University of Milan, Italy
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: Yes
4-If available: raw EEG data and MRI sequences