Targeted syndrome/gene under study:
OMIM # 618249
Abstract
We have identified 8 individuals from 7 independent families around the world with biallelic variants in the NDUFA13 gene. Patients present with a spectrum of neurodevelopmental abnormalities with progressive complex movement disorders, cerebellar ataxia, neurosensory abnormalities and epilepsy. This study is aimed at delineating the phenotype of recently described gene-disease association. Currently, with only two families reported, the clinical and molecular spectrum of NDUFA13-related Complex I deficiency remains poorly characterized. We are interested in families with biallelic ultra-rare variants in NDUFA13. We would like to receive detailed clinical data, brain MRI images, video of the patients for a deeper phenotyping, genetic data with segregation analysis, and skin biopsies for functional studies.
Coordinating clinicians
Dr. Reza Maroofian – r.maroofian@ucl.ac.uk
Dr. Rauan Kaiyrzhanov – rauan.kaiyrzhanov.14@ucl.ac.uk
Institution
Institute of Neurology, 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
3- Linked to a translational/basic research project: No