Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death

Pediatr Neurol. 1996 Sep;15(2):145-9. doi: 10.1016/0887-8994(96)00163-4.


We describe an A-to-G transition at nucleotide 10044 in the tRNA(Gly) gene of mitochondrial DNA in a sibship in which the proband died at age 8 years after a severe encephalopathy, a brother died of sudden and unexpected death, and the other six siblings had a combination of symptoms, including apparent life-threatening events and gastroesophageal reflux. This novel mutation was very abundant (> 90%) in liver and muscle of the proband and in several tissues, including blood, from his affected siblings (range 91-99%) but was less abundant in blood from the asymptomatic mother (88%) and maternal grandmother (85%). Our findings further enlarge the spectrum of clinical presentations associated with mitochondrial DNA mutations.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Child
  • Child, Preschool
  • DNA Mutational Analysis*
  • DNA, Mitochondrial / genetics*
  • Death, Sudden / etiology*
  • Female
  • Genetic Carrier Screening
  • Humans
  • Infant
  • Male
  • Mitochondrial Encephalomyopathies / genetics*
  • Molecular Sequence Data
  • Pedigree
  • RNA, Transfer, Gly / genetics*


  • DNA, Mitochondrial
  • RNA, Transfer, Gly