A POINT MUTATION IN THE TYROSINE-HYDROXYLASE GENE ASSOCIATED WITH SEGAWAS SYNDROME

Authors
LUDECKE B DWORNICZAK B BARTHOLOME K
Citation
B. Ludecke et al., A POINT MUTATION IN THE TYROSINE-HYDROXYLASE GENE ASSOCIATED WITH SEGAWAS SYNDROME, Human genetics, 95(1), 1995, pp. 123-125
Citations number
11
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
95
Issue
1
Year of publication
1995
Pages
123 - 125
Database
ISI
SICI code
0340-6717(1995)95:1<123:APMITT>2.0.ZU;2-F
Abstract
We have examined the molecular basis of Segawa's syndrome in six famil ies with seven affected children. In one family two siblings with this disease carried a point mutation in exon 11 of the tyrosine hydroxyla se gene, resulting in an amino acid exchange of Gln(381) to Lys(381). These results suggest that a change in tyrosine hydroxylase causes thi s form of Segawa's syndrome.