Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions

Eur J Pediatr. 2015 Feb;174(2):267-70. doi: 10.1007/s00431-014-2370-y. Epub 2014 Jul 10.


The propositus presented with hypotonia, respiratory failure, and seizures in the newborn period and was found to have severe hyperlactacidemia and a hypertrophic heart. He carried a de novo pathogenic mutation (m.8993 T>G) in the gene encoding subunit 6 of the mitochondrial ATP synthase (MTATP6). Although the lactate concentration in serum normalized and the proband recovered after a short period at the neonatal intensive care unit, his ultimate motor and cognitive development was poor. Brain MRI at the age of 6 months showed bilaterally signal abnormalities in the caudate nucleus, putamen, thalamus, and mesencephalon. He died at the age of 9 months. The difficulty in genetic counseling in families with a maternal mitochondrial mutation disorder is emphasized.

Conclusion: Here, we report on a neonate with the m.8993 T>G mutation and emphasize implications of mtDNA disorders on family planning decisions.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Lactic / genetics*
  • DNA, Mitochondrial / genetics*
  • Fatal Outcome
  • Genetic Counseling
  • Humans
  • Infant, Newborn
  • Leigh Disease / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mitochondria / genetics*
  • Mitochondrial Proton-Translocating ATPases / genetics*
  • Point Mutation / genetics*


  • DNA, Mitochondrial
  • MT-ATP6 protein, human
  • Mitochondrial Proton-Translocating ATPases