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Distribution, type, and origin of Parkin mutations: Review and case studies

โœ Scribed by Katja Hedrich; Cordula Eskelson; Beth Wilmot; Karen Marder; Juliette Harris; Jennifer Garrels; Helen Meija-Santana; Peter Vieregge; Helfried Jacobs; Susan B. Bressman; Anthony E. Lang; Martin Kann; Giovanni Abbruzzese; Paolo Martinelli; Eberhard Schwinger; Laurie J. Ozelius; Peter P. Pramstaller; Christine Klein; Patricia Kramer

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
175 KB
Volume
19
Category
Article
ISSN
0885-3185

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โœฆ Synopsis

Abstract

Earlyโ€onset Parkinson's disease (PD) has been associated with different mutations in the Parkin gene (PARK2). To study distribution and type of Parkin mutations, we carried out a comprehensive literature review that demonstrated two prominent types of mutations among 379 unrelated mutation carriers: exon rearrangements involving exon 3, 4, or both, and alterations in exons 2 and 7, suggesting mutational hot spots or founders. To elucidate the origin of 14 recurrent Parkin mutations in our samples, we carried out a detailed haplotype analysis at the PARK2 locus. Thirtyโ€eight mutationโ€positive individuals, available family members, and 62 mutationโ€negative individuals were genotyped. We determined allele frequencies and linkage disequilibrium (LD) to evaluate the significance of shared haplotypes. We observed no LD between markers at PARK2. Our data support a common founder for the most frequent Parkin point mutation (924C>T; exon 7) and indicate a mutational hot spot as cause of a common small deletion (255/256delA; exon 2). Furthermore, the most frequent Parkin exon deletion (Ex4del) arose independently in 2 of our subjects. However, it also occurred as the result of a founder mutation in 2 cases that shared identical deletion break points. This study provides evidence for both mutational hot spots and founder mutations as a source of recurrent mutations in Parkin, regardless of the mutation type. ยฉ 2004 Movement Disorder Society

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