Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.
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ABSTRACT:
SUBMITTER: Ross OA
PROVIDER: S-EPMC2749264 | biostudies-literature | 2009 Jul
REPOSITORIES: biostudies-literature
Publications
Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.
Ross Owen A OA Spanaki Cleanthe C Griffith Alida A Lin Chin-Hsien CH Kachergus Jennifer J Haugarvoll Kristoffer K Latsoudis Helen H Plaitakis Andreas A Ferreira Joaquim J JJ Sampaio Cristina C Bonifati Vincenzo V Wu Ruey-Meei RM Zabetian Cyrus P CP Farrer Matthew J MJ
Parkinsonism & related disorders 20081026 6
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 ...[more]
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