Human Genetics

, Volume 95, Issue 1, pp 123–125

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


  • Barbara Lüdecke
    • Universitäts-Kinderklinik
  • Bernd Dworniczak
    • Institut für Humangenetik der Universität
  • Klaus Bartholomé
    • Universitäts-Kinderklinik
Clinical Case Report

DOI: 10.1007/BF00225091

Cite this article as:
Lüdecke, B., Dworniczak, B. & Bartholomé, K. Hum Genet (1995) 95: 123. 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.

Copyright information

© Springer-Verlag 1995