Targeted gene under study:
ATP6V0A1
Abstract
The V-ATPase disorders are recently described ultra-rare conditions linked to the changes in the function of the V-ATPase, which is a proton pump acidifying the lysosome, integral to synaptic transmission. The diagnosis is often at a very young age, with symptoms including neonatal seizures, developmental delay, ataxia, hypotonia, intellectual disability (ID), and sometimes metabolic changes. The presentation encompasses a wide clinical spectrum, with a less severe intellectual impairment in some patients. It is also likely that paediatric patients with milder symptoms, may develop early onset adult neurodegeneration. The establishment of appropriate care for conditions specific to the syndrome, and the provision of information and genetic counselling for families are hindered by limited understanding of the V-ATPase disorders. We are interested in a genotype-phenotype study of patients with variants in ATP6V0A1.
Coordinating team
Prof. Nicholas Allen (Clinician Researcher) nicholas.m.allen@universityofgalway.ie
Prof. Kasia Whysall (Scientist) kasia.whysall@universityofgalway.ie
Institution
University of Galway, Ireland, in collaboration with national and international colleagues.
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