Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.
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.
Swaans
R J
RJ
Laboratory of Paediatrics and Neurology, University Hospital Nijmegen, The Netherlands.
Rondot
P
P
Renier
W O
WO
Van Den Heuvel
L P
LP
Steenbergen-Spanjers
G C
GC
Wevers
R A
RA
D000328:Adult; D000595:Amino Acid Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005091:Exons; D005260:Female; D006801:Humans; D007438:Introns; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D020734:Parkinsonian Disorders / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017386:Sequence Homology, Amino Acid; D014446:Tyrosine 3-Monooxygenase / Q000235:genetics*
D017931:DNA Primers; D007980:Levodopa; D014446:Tyrosine 3-Monooxygenase