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

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.