2. Academic Validation
  3. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome

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.
B Lüdecke 1,  B Dworniczak,  K Bartholomé
Affiliations

Affiliation

  • 1 Universitäts-Kinderklinik, Bochum, Germany.
PMID: 7814018 DOI: 10.1007/BF00225091
Abstract

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.

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