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

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Abstract

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.

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Fig. 1
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Abbreviations

BN-PAGE:

blue native polyacrylamide gel electrophoresis

CSF:

cerebrospinal fluid

NARP:

neurogenic weakness, ataxia, and retinitis pigmentosa

OXPHOS:

oxidative phosphorylation

PB:

polar body

PGD:

pre-implantation genetic diagnosis

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Ethics

The patient’s parents have given their informed consent for publication of this case report.

Conflict of interest

The authors declare that they have no conflict of interest.

Author information

Authors and Affiliations

  1. Department of Neonatology, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium

    Claudine De Praeter & Piet Vanhaesebrouck

  2. Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium

    Arnaud Vanlander, Joél Smet & Rudy Van Coster

  3. Center of Medical Genetics, UZ Brussel and REGE, Vrije Universiteit Brussel (VUB), Laarbeeklaan 101, 1090, Brussels, Belgium

    Sara Seneca

  4. Department of Reproductive Medicine, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium

    Petra De Sutter

Authors
  1. Claudine De Praeter
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  2. Arnaud Vanlander
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  3. Piet Vanhaesebrouck
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  4. Joél Smet
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  5. Sara Seneca
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  6. Petra De Sutter
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  7. Rudy Van Coster
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Corresponding author

Correspondence to Claudine De Praeter.

Additional information

Communicated by Beat Steinmann

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De Praeter, C., Vanlander, A., Vanhaesebrouck, P. et al. Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions. Eur J Pediatr 174, 267–270 (2015). https://doi.org/10.1007/s00431-014-2370-y

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  • DOI: https://doi.org/10.1007/s00431-014-2370-y

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