R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation
Identifieur interne : 001500 ( PascalFrancis/Checkpoint ); précédent : 001499; suivant : 001501R1514Q 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.
Descripteurs français
- Pascal (Inist)
English descriptors
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.
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Nichols</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Cincinnati Children's Hospital Medical Center</s1><s2>Cincinnati, Ohio</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Ohio</region></placeName></affiliation><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>University of Cincinnati College of Medicine</s1><s2>Cincinnati, Ohio</s2><s3>USA</s3><sZ>1 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="01"><s1>Cincinnati Children's Hospital Medical Center</s1><s2>Cincinnati, Ohio</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="01"><s1>Cincinnati Children's Hospital Medical Center</s1><s2>Cincinnati, Ohio</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="03"><s1>Indiana University Medical Center</s1><s2>Indianapolis, Indiana</s2><s3>USA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="03"><s1>Indiana University Medical Center</s1><s2>Indianapolis, Indiana</s2><s3>USA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="04"><s1>University of Rochester</s1><s2>Rochester, New York</s2><s3>USA</s3><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country><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="3"><inist:fA14 i1="05"><s1>University of California, San Diego</s1><s2>La Jolla</s2><s3>USA</s3><sZ>7 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">San Diego</settlement><region type="state">Californie</region></placeName></affiliation><affiliation wicri:level="2"><inist:fA14 i1="06"><s1>VA San Diego Healthcare System</s1><s2>San Diego, California</s2><s3>USA</s3><sZ>7 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="03"><s1>Indiana University Medical Center</s1><s2>Indianapolis, Indiana</s2><s3>USA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="03"><s1>Indiana University Medical Center</s1><s2>Indianapolis, Indiana</s2><s3>USA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Indiana</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Mutation</term><term>Nervous system diseases</term><term>Parkinson disease</term><term>Substitution</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Parkinson maladie</term><term>Substitution</term><term>Mutation</term></keywords></textClass></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.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>22</s2></fA05><fA06><s2>2</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation</s1></fA08><fA11 i1="01" i2="1"><s1>NICHOLS (William C.)</s1></fA11><fA11 i1="02" i2="1"><s1>MAREK (Diane K.)</s1></fA11><fA11 i1="03" i2="1"><s1>PAUCIULO (Michael W.)</s1></fA11><fA11 i1="04" i2="1"><s1>PANKRATZ (Nathan)</s1></fA11><fA11 i1="05" i2="1"><s1>HALTER (Cheryl A.)</s1></fA11><fA11 i1="06" i2="1"><s1>RUDOLPH (Alice)</s1></fA11><fA11 i1="07" i2="1"><s1>SHULTS (Clifford W.)</s1></fA11><fA11 i1="08" i2="1"><s1>WOJCIESZEK (Joanne)</s1></fA11><fA11 i1="09" i2="1"><s1>FOROUD (Tatiana)</s1></fA11><fA14 i1="01"><s1>Cincinnati Children's Hospital Medical Center</s1><s2>Cincinnati, Ohio</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></fA14><fA14 i1="02"><s1>University of Cincinnati College of Medicine</s1><s2>Cincinnati, Ohio</s2><s3>USA</s3><sZ>1 aut.</sZ></fA14><fA14 i1="03"><s1>Indiana University Medical Center</s1><s2>Indianapolis, Indiana</s2><s3>USA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></fA14><fA14 i1="04"><s1>University of Rochester</s1><s2>Rochester, New York</s2><s3>USA</s3><sZ>6 aut.</sZ></fA14><fA14 i1="05"><s1>University of California, San Diego</s1><s2>La Jolla</s2><s3>USA</s3><sZ>7 aut.</sZ></fA14><fA14 i1="06"><s1>VA San Diego Healthcare System</s1><s2>San Diego, California</s2><s3>USA</s3><sZ>7 aut.</sZ></fA14><fA17 i1="01" i2="1"><s1>The Parkinson Study Group-PROGENI Investigators</s1><s3>USA</s3></fA17><fA20><s1>254-257</s1></fA20><fA21><s1>2007</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000145528070200</s5></fA43><fA44><s0>0000</s0><s1>© 2007 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>10 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>07-0133255</s0></fA47><fA60><s1>P</s1><s3>CC</s3></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17G</s0></fC02><fC02 i1="03" i2="X"><s0>002B17A03</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Parkinson maladie</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Parkinson disease</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Parkinson enfermedad</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Substitution</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Substitution</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Substitución</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Mutation</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Mutation</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Mutación</s0><s5>10</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Encéphale pathologie</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>40</s5></fC07><fN21><s1>085</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><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><settlement><li>San Diego</li></settlement></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="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)
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|étape= Checkpoint
|type= RBID
|clé= Pascal:07-0133255
|texte= R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation
}}
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