R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation
Identifieur interne : 000F73 ( Main/Exploration ); précédent : 000F72; suivant : 000F74R1514Q 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.
English descriptors
- KwdEn :
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:
Links toward previous steps (curation, corpus...)
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation</title><author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name></author><author><name sortKey="Marek, Diane K" sort="Marek, Diane K" uniqKey="Marek D" first="Diane K." last="Marek">Diane K. Marek</name></author><author><name sortKey="Pauciulo, Michael W" sort="Pauciulo, Michael W" uniqKey="Pauciulo M" first="Michael W." last="Pauciulo">Michael W. Pauciulo</name></author><author><name sortKey="Pankratz, Nathan" sort="Pankratz, Nathan" uniqKey="Pankratz N" first="Nathan" last="Pankratz">Nathan Pankratz</name></author><author><name sortKey="Halter, Cheryl A" sort="Halter, Cheryl A" uniqKey="Halter C" first="Cheryl A." last="Halter">Cheryl A. Halter</name></author><author><name sortKey="Rudolph, Alice" sort="Rudolph, Alice" uniqKey="Rudolph A" first="Alice" last="Rudolph">Alice Rudolph</name></author><author><name sortKey="Shults, Clifford W" sort="Shults, Clifford W" uniqKey="Shults C" first="Clifford W." last="Shults">Clifford W. Shults</name></author><author><name sortKey="Wojcieszek, Joanne" sort="Wojcieszek, Joanne" uniqKey="Wojcieszek J" first="Joanne" last="Wojcieszek">Joanne Wojcieszek</name></author><author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:24667288E607E12E0690311F4A6AA62235686E9D</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21233</idno><idno type="url">https://api.istex.fr/document/24667288E607E12E0690311F4A6AA62235686E9D/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">001119</idno><idno type="wicri:Area/Main/Curation">000F25</idno><idno type="wicri:Area/Main/Exploration">000F73</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation</title><author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Cincinnati College of Medicine, Cincinnati, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Marek, Diane K" sort="Marek, Diane K" uniqKey="Marek D" first="Diane K." last="Marek">Diane K. Marek</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Pauciulo, Michael W" sort="Pauciulo, Michael W" uniqKey="Pauciulo M" first="Michael W." last="Pauciulo">Michael W. Pauciulo</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Pankratz, Nathan" sort="Pankratz, Nathan" uniqKey="Pankratz N" first="Nathan" last="Pankratz">Nathan Pankratz</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Indiana University Medical Center, Indianapolis, Indiana</wicri:regionArea><placeName><region type="state">Indiana</region></placeName></affiliation></author><author><name sortKey="Halter, Cheryl A" sort="Halter, Cheryl A" uniqKey="Halter C" first="Cheryl A." last="Halter">Cheryl A. Halter</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Indiana University Medical Center, Indianapolis, Indiana</wicri:regionArea><placeName><region type="state">Indiana</region></placeName></affiliation></author><author><name sortKey="Rudolph, Alice" sort="Rudolph, Alice" uniqKey="Rudolph A" first="Alice" last="Rudolph">Alice Rudolph</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Rochester, Rochester, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Shults, Clifford W" sort="Shults, Clifford W" uniqKey="Shults C" first="Clifford W." last="Shults">Clifford W. Shults</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of California, San Diego, La Jolla, and VA San Diego Healthcare System, San Diego, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Wojcieszek, Joanne" sort="Wojcieszek, Joanne" uniqKey="Wojcieszek J" first="Joanne" last="Wojcieszek">Joanne Wojcieszek</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Indiana University Medical Center, Indianapolis, Indiana</wicri:regionArea><placeName><region type="state">Indiana</region></placeName></affiliation></author><author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Indiana University Medical Center, Indianapolis, Indiana</wicri:regionArea><placeName><region type="state">Indiana</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-01-15">2007-01-15</date><biblScope unit="volume">22</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="254">254</biblScope><biblScope unit="page" to="256">256</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">24667288E607E12E0690311F4A6AA62235686E9D</idno><idno type="DOI">10.1002/mds.21233</idno><idno type="ArticleID">MDS21233</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>LRRK2</term><term>Parkinson's disease</term><term>genetics</term><term>mutation</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Californie</li><li>Indiana</li><li>Ohio</li><li>État de New York</li></region></list><tree><country name="États-Unis"><region name="Ohio"><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name></region><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name><name sortKey="Halter, Cheryl A" sort="Halter, Cheryl A" uniqKey="Halter C" first="Cheryl A." last="Halter">Cheryl A. Halter</name><name sortKey="Marek, Diane K" sort="Marek, Diane K" uniqKey="Marek D" first="Diane K." last="Marek">Diane K. Marek</name><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name><name sortKey="Pankratz, Nathan" sort="Pankratz, Nathan" uniqKey="Pankratz N" first="Nathan" last="Pankratz">Nathan Pankratz</name><name sortKey="Pauciulo, Michael W" sort="Pauciulo, Michael W" uniqKey="Pauciulo M" first="Michael W." last="Pauciulo">Michael W. Pauciulo</name><name sortKey="Rudolph, Alice" sort="Rudolph, Alice" uniqKey="Rudolph A" first="Alice" last="Rudolph">Alice Rudolph</name><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000F73 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000F73 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:24667288E607E12E0690311F4A6AA62235686E9D
|texte= R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation
}}
| This area was generated with Dilib version V0.6.23. |  |