title: Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions.
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.
  
  
  CONCLUSIONS
  Here, we report on a neonate with the m.8993 T>G mutation and emphasize implications of mtDNA disorders on family planning decisions.
authors.affiliation: Department of Neonatology, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium, claudine.depraeter@ugent.be.
authors.forename: Claudine
authors.initials: C
authors.lastname: De Praeter
authors.forename: Arnaud
authors.initials: A
authors.lastname: Vanlander
authors.forename: Piet
authors.initials: P
authors.lastname: Vanhaesebrouck
authors.forename: Joél
authors.initials: J
authors.lastname: Smet
authors.forename: Sara
authors.initials: S
authors.lastname: Seneca
authors.forename: Petra
authors.initials: P
authors.lastname: De Sutter
authors.forename: Rudy
authors.initials: R
authors.lastname: Van Coster
mesh_terms: D000140:Acidosis, Lactic / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D017809:Fatal Outcome; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D007888:Leigh Disease / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D025261:Mitochondrial Proton-Translocating ATPases / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; C501005:MT-ATP6 protein, human; D025261:Mitochondrial Proton-Translocating ATPases