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Targeted gene under study
SLC9A1 and CHP1, OMIM: 616291, 618438
Abstract
Rare recessive variants in SLC9A1 and CHP1 cause a syndrome of early-onset cerebellar ataxia and variable sensorineural hearing loss. So far, only 3 families with SLC9A1-related ataxia and 2 families with CHP1-related ataxia have been identified. We have identified 18 additional patients with SLC9A1-related ataxia from 13 families. The aim of this project is to identify new patients with SLC9A1-related ataxia and CHP1-related ataxia and further delineate the phenotypic spectrum of these ultra-rare disorders.
Coordinating clinicians/researchers
Reza Maroofian – r.maroofian@ucl.ac.uk
Institution
University College London, London, UK
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