R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation
Identifieur interne : 002C33 ( Main/Exploration ); précédent : 002C32; suivant : 002C34R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation
Auteurs : William C. Nichols [États-Unis] ; Diane K. Marek [États-Unis] ; Michael W. Pauciulo [États-Unis] ; Nathan Pankratz [États-Unis] ; Cheryl A. Halter [États-Unis] ; Alice Rudolph [États-Unis] ; Clifford W. Shults [États-Unis] ; Joanne Wojcieszek [États-Unis] ; Tatiana Foroud [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-01-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adenine Nucleotide Translocator 1 (genetics), Adolescent, Adult, Aged, Aged, 80 and over, Amino Acid Substitution (genetics), Arginine (genetics), Carrier Proteins (genetics), Diagnosis, Differential, Female, Genetic Variation (genetics), Genotype, Humans, LRRK2, Male, Middle Aged, Mutation, Nervous system diseases, Parkinson Disease (diagnosis), Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Point Mutation (genetics), Protein-Serine-Threonine Kinases (genetics), Substitution, genetics, mutation.
- MESH :
- chemical , genetics : Adenine Nucleotide Translocator 1, Arginine, Carrier Proteins, Protein-Serine-Threonine Kinases.
- diagnosis : Parkinson Disease.
- genetics : Amino Acid Substitution, Genetic Variation, Parkinson Disease, Point Mutation.
- Adolescent, Adult, Aged, Aged, 80 and over, Diagnosis, Differential, Female, Genotype, Humans, Male, Middle Aged.
Abstract
Mutations in LRRK2 were first reported as causing Parkinson's disease (PD) in late 2004. Since then, approximately a dozen LRRK2 substitutions have been identified that are believed to be pathogenic mutations. The substitution of adenine for guanine at nucleotide 4541 (4541G>A) in LRRK2 was recently reported. This substitution resulted in the replacement of an arginine at position 1514 with a glutamine (R1514Q). Although this substitution was not found in a large cohort of controls, its pathogenicity could not be verified. We have now genotyped the R1514Q substitution in a sample of 954 PD patients from 429 multiplex PD families. This substitution was identified in 1.8% of the PD patients; however, the majority of the PD sibships segregating this substitution were discordant for this putative mutation. In addition, the R1514Q substitution was detected in 1.4% of neurologically evaluated, control individuals. These data suggest that the R1514Q variant is not a pathogenic LRRK2 mutation. We believe it is imperative that the causative nature of any newly identified genetic variant be determined before it is included in any panel for diagnostic testing. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21233
Affiliations:
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Le document en format XML
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<term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Amino Acid Substitution (genetics)</term>
<term>Arginine (genetics)</term>
<term>Carrier Proteins (genetics)</term>
<term>Diagnosis, Differential</term>
<term>Female</term>
<term>Genetic Variation (genetics)</term>
<term>Genotype</term>
<term>Humans</term>
<term>LRRK2</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson Disease (diagnosis)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson disease</term>
<term>Parkinson's disease</term>
<term>Point Mutation (genetics)</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Substitution</term>
<term>genetics</term>
<term>mutation</term>
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<term>Arginine</term>
<term>Carrier Proteins</term>
<term>Protein-Serine-Threonine Kinases</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Amino Acid Substitution</term>
<term>Genetic Variation</term>
<term>Parkinson Disease</term>
<term>Point Mutation</term>
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<term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Diagnosis, Differential</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
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<front><div type="abstract" xml:lang="en">Mutations in LRRK2 were first reported as causing Parkinson's disease (PD) in late 2004. Since then, approximately a dozen LRRK2 substitutions have been identified that are believed to be pathogenic mutations. The substitution of adenine for guanine at nucleotide 4541 (4541G>A) in LRRK2 was recently reported. This substitution resulted in the replacement of an arginine at position 1514 with a glutamine (R1514Q). Although this substitution was not found in a large cohort of controls, its pathogenicity could not be verified. We have now genotyped the R1514Q substitution in a sample of 954 PD patients from 429 multiplex PD families. This substitution was identified in 1.8% of the PD patients; however, the majority of the PD sibships segregating this substitution were discordant for this putative mutation. In addition, the R1514Q substitution was detected in 1.4% of neurologically evaluated, control individuals. These data suggest that the R1514Q variant is not a pathogenic LRRK2 mutation. We believe it is imperative that the causative nature of any newly identified genetic variant be determined before it is included in any panel for diagnostic testing. © 2006 Movement Disorder Society</div>
</front>
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<name sortKey="Shults, Clifford W" sort="Shults, Clifford W" uniqKey="Shults C" first="Clifford W." last="Shults">Clifford W. Shults</name>
<name sortKey="Wojcieszek, Joanne" sort="Wojcieszek, Joanne" uniqKey="Wojcieszek J" first="Joanne" last="Wojcieszek">Joanne Wojcieszek</name>
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