Gene/phenotype/disorder under study
TTC19
Abstract
TTC19 (chr 17p12) codes for a subunit of mitochondrial complex III, a multiprotein homodimeric complex with at least 19 nuclear and mitochondrial encoded subunits involved in ubiquinol oxidation and cytochrome c reduction, coupled with the extrusion of protons across the inner mitochondrial membrane. In mammals, the mature isoform of TTC19 acts as an assembly factor clearing the cleaved amino terminus of the ISP.
Biallelic TTC19 variants have been linked to human disease in less than a dozen of cases so far. Its phenotype corresponds to a neurodegenerative disease with variable age of onset and a broad range of symptoms leading to severe disability, including ataxia, dystonia, cognitive decline, psychiatric disorders and axonal neuropathy.
We have identified several affected individuals with biallelic variants in TTC19 in unrelated families. Our goal is to conduct a comprehensive phenotypic and genotypic characterisation and to define the natural history of this disorder.
Coordinating clinician
Dr Francesca Magrinelli – f.magrinelli@ucl.ac.uk
Institution
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: Yes (not mandatory)
2- Resampling of patients: No
3- Linked to a translational/basic research project: No