A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome

Eur J Hum Genet. 2004 Jun;12(6):509-12. doi: 10.1038/sj.ejhg.5201185.


We report a novel, heteroplasmic point mutation in the mitochondrial tRNA for tryptophan at position 5532. The mutation was present in all the tissues studied and segregated with the biochemical defect, with higher levels of mutation present in cytochrome c oxidase-deficient muscle fibres. The patient manifested a neurogastrointestinal syndrome with features including failure to thrive, psychomotor retardation, ophthalmoplegia, sensorineural deafness and encephalopathy together with vomiting, diarrhoea and colitis.

Publication types

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

MeSH terms

  • Adolescent
  • Base Sequence
  • Chromosome Segregation*
  • DNA, Mitochondrial / chemistry
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex IV / metabolism
  • Female
  • Gastrointestinal Diseases / genetics*
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Mitochondrial Encephalomyopathies / genetics*
  • Molecular Sequence Data
  • Muscle Fibers, Skeletal / enzymology
  • Ophthalmoplegia / genetics
  • Point Mutation / genetics*
  • RNA, Transfer, Trp / genetics*
  • Syndrome


  • DNA, Mitochondrial
  • RNA, Transfer, Trp
  • Electron Transport Complex IV