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Parkinsonism Relat Disord. 2009 Jul;15(6):466-7. doi: 10.1016/j.parkreldis.2008.09.001. Epub 2008 Oct 26.

Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.

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1
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA. ross.owen@mayo.edu

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.

PMID:
18952485
PMCID:
PMC2749264
DOI:
10.1016/j.parkreldis.2008.09.001
[Indexed for MEDLINE]
Free PMC Article
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