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Four novel mutations in the Tyrosine Hydroxylase gene in patients with infantile parkinsonism

Published online by Cambridge University Press:  01 January 2000

R. J. M. SWAANS ,
P. RONDOT ,
W. O. RENIER ,
L. P. W. J. VAN DEN HEUVEL ,
G. C. H. STEENBERGEN-SPANJERS  and
R. A. WEVERS
R. J. M. SWAANS
Affiliation:
Laboratory of Paediatrics and Neurology, University Hospital Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
P. RONDOT
Affiliation:
Hôpital de Bicêtre, F-94275 Le Kremlin Bicêtre, Paris, France
W. O. RENIER
Affiliation:
Department of Child Neurology, University Hospital Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
L. P. W. J. VAN DEN HEUVEL
Affiliation:
Laboratory of Paediatrics and Neurology, University Hospital Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
G. C. H. STEENBERGEN-SPANJERS
Affiliation:
Laboratory of Paediatrics and Neurology, University Hospital Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
R. A. WEVERS
Affiliation:
Laboratory of Paediatrics and Neurology, University Hospital Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
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Abstract

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.

Type
Research Article
Information
Annals of Human Genetics , Volume 64 , Issue 1 , January 2000 , pp. 25 - 31
Copyright
© University College London 2000

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