Origin of the mutations in the parkin gene in europe: Exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects

A wide variety of mutations in the parkin gene, including exon deletions an d duplications, as well as point mutations, result in autosomal recessive e arly-onset parkinsonism. Interestingly, several of these anomalies were fou nd repeatedly in unrelated patients and may therefore result from recurrent , de novo mutational events or from founder effects. In the present study, haplotype analysis, using 10 microsatellite markers covering a 4.7-cM regio n known to contain the parkin gene, was performed in 48 families, mostly fr om European countries, with early-onset autosomal recessive parkinsonism. T he patients carried 14 distinct mutations in the parkin gene, and each muta tion was detected in more than one family. Our results support the hypothes is that exon rearrangements occurred independently, whereas some point muta tions, found in families from different geographic origins, may have been t ransmitted by a common founder.