Targeted gene/phenotype/disorder under study:
OMIM # 618247
Abstract
NADH:ubiquinone oxidoreductase subunit A9 is an accessory component of mitochondrial complex I (CI), i.e. the largest enzymatic complex of the oxidative phosphorylation system. It is encoded by the nuclear gene NDUFA9 and contributes to stabilize the junction between membrane and matrix arms of CI. Biallelic NDUFA9 variants have hitherto been reported in one case with neonatally fatal Leigh syndrome and one case with childhood-onset generalized
dystonia associated with sensorimotor polyneuropathy. We are working on a novel series of patients with NDUFA9-related mitochondrial disorder to expand its phenotypic and genotypic spectrum
Coordinating clinicians
Dr Francesca Magrinelli – f.magrinelli@ucl.ac.uk
Institution
University College London, London, UK
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No or in a second step
3- Linked to a translational/basic research project: Yes