Gene/phenotype/disorder under study
ATP2B2
Abstract
The ATP2B2 gene codes for the PMCA2 calcium pump, which is mainly expressed in the sensory cells of the ear and certain specific neurons. It regulates intracellular calcium homeostasis. Variations in this gene are associated with a phenotype of isolated progressive hearing loss (OMIM#619804). Two recent publications report cohorts of patients with missense and truncating variations in ATP2B2 presenting with complex neurological disorders.
We have identified around fifteen patients with different types of mutations and different phenotypes ranging from isolated deafness to severe epilepsy and developmental delays.
We would like to expand our cohort in order to confirm the phenotype-genotype correlations that appear to be emerging within the variations of this gene, so as to better characterize these pathologies and facilitate the interpretation of these variations.
Coordinating clinician
Dr Tristan CELSE – tcelse@chu-grenoble.fr
Institution
Grenoble Alpes University Hospital, France
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