Abstract
Mutations in the Parkin gene cause juvenile and early onset Parkinsonism. While Parkin-related disease is presumed to be an autosomal-recessive disorder, cases have been reported where only a single Parkin allele is mutated and raise the possibility of a dominant effect. In this report, we reevaluate twenty heterozygous cases and extend the mutation screening to include the promoter and intron/exon boundaries. Novel deletion, point and intronic splice site mutations are described, along with promoter variation. These data, coupled with a complete review of published Parkin mutations, confirms that not only is recessive loss of Parkin a risk factor for juvenile and early onset Parkinsonism but that Parkin haploinsufficiency may be sufficient for disease in some cases. (C) 2002 Wiley-Liss, Inc.
Original language | English |
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Pages (from-to) | 584-591 |
Number of pages | 8 |
Journal | American Journal of Medical Genetics. Part A |
Volume | 114 |
Issue number | 5 |
Early online date | 11 Jun 2002 |
DOIs | |
Publication status | Published - 1 Jul 2002 |
Keywords
- haplo-insufficiency
- Parkinson disease
- neurodegeneration
- Parkin