Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation

J Child Neurol. 2000 Jun;15(6):357-61. doi: 10.1177/088307380001500601.


We report a family with a heterogeneous group of neurologic disorders associated with the mitochondrial DNA G8363A transfer ribonucleic acid (RNA)Lys mutation. The phenotype of one child in the family was consistent with autism. During his second year of life, he lost previously acquired language skills and developed marked hyperactivity with toe-walking, abnormal reciprocal social interaction, stereotyped mannerisms, restricted interests, self-injurious behavior, and seizures. Brain magnetic resonance imaging (MRI) and repeated serum lactate studies were normal. His older sister developed signs of Leigh syndrome with progressive ataxia, myoclonus, seizures, and cognitive regression. Her laboratory studies revealed increased MRI T2-weighted signal in the putamen and posterior medulla, elevated lactate in serum and cerebrospinal fluid, and absence of cytochrome c oxidase staining in muscle histochemistry. Molecular analysis in her revealed the G8363A mutation of the mitochondrial transfer RNA(Lys) gene in blood (82% mutant mitochondrial DNA) and muscle (86%). The proportions of mutant mitochondrial DNA from her brother with autism were lower (blood 60%, muscle 61%). It is likely that the origin of his autism phenotype is the pathogenic G8363A mitochondrial DNA mutation. This observation suggests that certain mitochondrial point mutations could be the basis for autism in some individuals.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Autistic Disorder / genetics*
  • Autistic Disorder / physiopathology
  • Autistic Disorder / psychology
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Epilepsy / genetics
  • Female
  • Genotype
  • Humans
  • Learning Disabilities / genetics
  • Leigh Disease / genetics*
  • Male
  • Muscle, Skeletal / pathology
  • Pedigree
  • Phenotype
  • Point Mutation*
  • RNA, Transfer, Lys / genetics*
  • Severity of Illness Index


  • DNA, Mitochondrial
  • RNA, Transfer, Lys