Gene/phenotype/disorder of interest
COA8 (OMIM *616003); Mitochondrial complex IV deficiency, nuclear type 17 (OMIM #619061)
Abstract
COA8 encodes a mitochondrial inner-membrane protein involved in the assembly and stability of respiratory-chain complex IV, particularly under oxidative stress. Biallelic loss of function variants in COA8 cause mitochondrial complex IV deficiency, nuclear type 17, a rare disorder reported in a small number of individuals. The clinical spectrum is heterogeneous and includes developmental regression, spasticity, ataxia, seizures, neuropathy, and leukoencephalopathy. We are establishing an international cohort to further delineate the phenotypic spectrum and genotype–phenotype correlations and to investigate mitochondrial dysfunction associated with COA8 deficiency. If you have identified individuals carrying biallelic disease-associated COA8 variants, we would be pleased to collaborate.
Coordinating clinicians
- M. Fatih Mulayim, MD; Department of Medical Genetics, Gazi University Faculty of Medicine, Ankara, Türkiye; dr.mfmulayim@gmail.com
- Reza Maroofian, PhD; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom; r.maroofian@ucl.ac.uk
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? Y