A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome |
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Authors: | Barbara Lüdecke Bernd Dworniczak Klaus Bartholomé |
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Affiliation: | (1) Universitäts-Kinderklinik, Alexandrinenstrasse 5, D-44791 Bochum, Germany;(2) Institut für Humangenetik der Universität, Vesaliusweg 12-14, D-48 149 Münster, Germany |
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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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