Abstract
Mutations of mitochondrial DNA (mtDNA) are an important cause of genetic disease1. We describe a family with an unusual homoplasmic mutation that resulted in six neonatal deaths and one surviving child with Leigh syndrome. The mother is clinically normal, but a severe biochemical and molecular genetic defect was present in both a fatally affected child and the mother. This family highlights the role of homoplasmic mt-tRNA mutations in genetic disease.
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Acknowledgements
We thank C. Hayes, Department of Neurology, Newcastle University, for expert technical assistance and S. Richmond, Department of Paediatrics, Sunderland Royal Hospital, for referring the family for investigation. This work was supported by grants from The Wellcome Trust and CLIMB.
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McFarland, R., Clark, K., Morris, A. et al. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nat Genet 30, 145–146 (2002). https://doi.org/10.1038/ng819
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DOI: https://doi.org/10.1038/ng819
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