A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome

Hum Genet. 1995 Jan;95(1):123-5. doi: 10.1007/BF00225091.


We have examined the molecular basis of Segawa's syndrome in six families with seven affected children. In one family two siblings with this disease carried a point mutation in exon 11 of the tyrosine hydroxylase gene, resulting in an amino acid exchange of Gln381 to Lys381. These results suggest that a change in tyrosine hydroxylase causes this form of Segawa's syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Circadian Rhythm
  • DNA Primers
  • Dystonia / enzymology
  • Dystonia / genetics*
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Molecular Sequence Data
  • Point Mutation*
  • Syndrome
  • Tyrosine 3-Monooxygenase / genetics*


  • DNA Primers
  • Tyrosine 3-Monooxygenase