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Four novel mutations in the Tyrosine Hydroxylase gene in patients with infantile parkinsonism
Author(s) -
SWAANS R. J. M.,
RONDOT P.,
RENIER W. O.,
HEUVEL L. P. W. J.,
STEENBERGENSPANJERS G. C. H.,
WEVERS R. A.
Publication year - 2000
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1046/j.1469-1809.2000.6410025.x
Subject(s) - missense mutation , exon , genetics , tyrosine hydroxylase , mutation , gene , restriction enzyme , biology , allele , parkinsonism , enzyme , microbiology and biotechnology , medicine , biochemistry , disease
Mutation detection in the Tyrosine Hydroxylase gene ( TH ) was performed in patients from two families. DNA sequencing revealed the presence of four novel missense mutations (exon 9 and 14 in family A, exon 8 and 9 in family B); the mutations were confirmed with restriction enzyme analysis, and did not occur in control alleles. Three mutations are in the catalytic domain of the enzyme and one may disturb tetramerization. At the moment, all patients are in the fourth decade of life. For more than 30 years they have been able to live a normal life with low‐dose l ‐DOPA medication.