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Published on: April 4, 2018
A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype
C Pirkevi1, S Lesage, C Condroyer
1Molecular Biology and Genetics Department, Neurodegeneration Research Laboratory, Boğaziçi University, 34342 Istanbul, Turkey.
Abstract:
The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is recognized as the most common cause of familial autosomal dominant and also sporadic forms of Parkinson disease (PD). A common founder has been described for most Europeans and all North Africans and Jews; besides, two distinct G2019S LRRK2 haplotypes were found in a small proportion of European families and in Japanese PD patients. This study revealed a Turkish patient heterozygous for the G2019S mutation sharing the Japanese haplotype. To the best of our knowledge, it is the first time that the G2019S-associated Japanese haplotype has been reported in a different population.
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