Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism

OA Ross; C Spanaki; A Griffith; CH Lin; J Kachergus; K Haugarvoll; H Latsoudis; A Plaitakis; JJ Ferreira; C Sampaio; Vincenzo Bonifati; RM Wu; CP Zabetian; MJ Farrer

doi:10.1016/j.parkreldis.2008.09.001

Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism

OA Ross, C Spanaki, A Griffith, CH Lin, J Kachergus, K Haugarvoll, H Latsoudis, A Plaitakis, JJ Ferreira, C Sampaio, Vincenzo Bonifati, RM Wu, CP Zabetian, MJ Farrer

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

32 Citations (Scopus)

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 81441 H is a pathogenic substitution. (C) 2008 Elsevier Ltd. All rights reserved.

Original language	Undefined/Unknown
Pages (from-to)	466-467
Number of pages	2
Journal	Parkinsonism & Related Disorders
Volume	15
Issue number	6
DOIs	https://doi.org/10.1016/j.parkreldis.2008.09.001
Publication status	Published - 2009

Research programs

EMC MGC-02-96-01

Access to Document

10.1016/j.parkreldis.2008.09.001

http://hdl.handle.net/1765/24489

Cite this

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title = "Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism",

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 81441 H is a pathogenic substitution. (C) 2008 Elsevier Ltd. All rights reserved.",

author = "OA Ross and C Spanaki and A Griffith and CH Lin and J Kachergus and K Haugarvoll and H Latsoudis and A Plaitakis and JJ Ferreira and C Sampaio and Vincenzo Bonifati and RM Wu and CP Zabetian and MJ Farrer",

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TY - JOUR

T1 - Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism

AU - Ross, OA

AU - Spanaki, C

AU - Griffith, A

AU - Lin, CH

AU - Kachergus, J

AU - Haugarvoll, K

AU - Latsoudis, H

AU - Plaitakis, A

AU - Ferreira, JJ

AU - Sampaio, C

AU - Bonifati, Vincenzo

AU - Wu, RM

AU - Zabetian, CP

AU - Farrer, MJ

PY - 2009

Y1 - 2009

N2 - 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 81441 H is a pathogenic substitution. (C) 2008 Elsevier Ltd. All rights reserved.

AB - 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 81441 H is a pathogenic substitution. (C) 2008 Elsevier Ltd. All rights reserved.

U2 - 10.1016/j.parkreldis.2008.09.001

DO - 10.1016/j.parkreldis.2008.09.001

M3 - Article

SN - 1353-8020

VL - 15

SP - 466

EP - 467

JO - Parkinsonism & Related Disorders

JF - Parkinsonism & Related Disorders

IS - 6

ER -