Human Genetics

, Volume 95, Issue 1, pp 123–125 | Cite as

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

  • Barbara Lüdecke
  • Bernd Dworniczak
  • Klaus Bartholomé
Clinical Case Report


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.


Internal Medicine Tyrosine Metabolic Disease Point Mutation Molecular Basis 
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Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • Barbara Lüdecke
    • 1
  • Bernd Dworniczak
    • 2
  • Klaus Bartholomé
    • 1
  1. 1.Universitäts-KinderklinikBochumGermany
  2. 2.Institut für Humangenetik der UniversitätMünsterGermany

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