Gene/phenotype/disorder of interest
ATP6V0C triplication (OMIM*108745), complex 16p13.3 structural rearrangements, early-onset progressive ataxia and neurodegeneration.
Abstract
We have identified a complex rearrangement of chromosome 16, resulting in a duplication-triplication, comprising a 16p13.3 triplication that includes the ATP6V0C gene with a probable dose-dependent effect. This rearrangement, mediated by palindromic sequences, was described in 11 patients in a recent publication. It is associated with a neurodegenerative phenotype characterized by early-onset progressive ataxia, cognitive decline, and cerebellar atrophy.
We would like to recruit patients carrying this rearrangement, identified by CGH array, exome sequencing, or genome sequencing, in order to establish a new cohort to further refine the clinical and molecular characterization.
Coordinating clinicians
- Anthony Glas; aglas@chu-besancon.fr
- Juliette Piard
- Paul Kuentz
Institution
Besançon University Hospital, France
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: N
- Resampling of patients: N
- Linked to a translational/basic research project? N