Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism - PubMed (original) (raw)
doi: 10.1016/j.parkreldis.2008.09.001. Epub 2008 Oct 26.
Cleanthe Spanaki, Alida Griffith, Chin-Hsien Lin, Jennifer Kachergus, Kristoffer Haugarvoll, Helen Latsoudis, Andreas Plaitakis, Joaquim J Ferreira, Cristina Sampaio, Vincenzo Bonifati, Ruey-Meei Wu, Cyrus P Zabetian, Matthew J Farrer
Affiliations
- PMID: 18952485
- PMCID: PMC2749264
- DOI: 10.1016/j.parkreldis.2008.09.001
Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism
Owen A Ross et al. Parkinsonism Relat Disord. 2009 Jul.
Abstract
The Roc domain of the Lrrk2 protein harbors two pathogenic mutations which cause autosomal dominant parkinsonism (R1441C and R1441G). A third putatively pathogenic variant (R1441H) has been identified in four probands of diverse ethnicity with parkinsonism. Herein we show that the R1441H substitutions lie on different haplotypes within our patients, confirming this codon as a mutational hotspot. The absence of this variant in control subjects and the presence of two other pathogenic variants at this amino acid position collectively support the contention that R1441H is a pathogenic substitution.
References
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