PRKN, DJ‐1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ‐1 mutations
Identifieur interne : 000125 ( Main/Corpus ); précédent : 000124; suivant : 000126PRKN, DJ‐1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ‐1 mutations
Auteurs : Farzaneh Ghazavi ; Zeinab Fazlali ; Setareh Sadat Banihosseini ; Sayed-Rzgar Hosseini ; Mohammad Hossein Kazemi ; Seyedmehdi Shojaee ; Khosro Parsa ; Homa Sadeghi ; Farzad Sina ; Mohammad Rohani ; Gholam-Ali Shahidi ; Nasser Ghaemi ; Mostafa Ronaghi ; Elahe ElahiSource :
- Movement Disorders [ 0885-3185 ] ; 2011-01.
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Abstract
We present results of mutation screening of PRKN gene in 93 Iranian Parkinson's disease (PD) patients with average age at onset (AAO) of 42.2 years. The gene was screened by direct sequencing and by a semi‐quantitative PCR protocol for detection of sequence rearrangements. Heterozygous rearrangements were tested by reverse transcription‐polymerase chain reaction (RT‐PCR). Nine different PRKN mutations were found. One of these, IVS9+1G>A, affects splicing and is novel. Two mutated PRKN alleles were observed in each of 6 patients whose average AAO was 25.7 years. Only 1 patient carried a single mutated allele and his AAO was 41 years. Among patients with AAO of <30 years, 31.3% had two mutated alleles, while only 2.6% with AAO of >30 years carried a PRKN mutation. Analysis of PRKN by RT‐PCR led to identification of a novel exon expressed in leukocytes of control and PD individuals. The alternatively spliced transcript if translated would code a protein without a RING Finger 2 domain. Its functional relevance remains to be shown. DJ‐I and PINK1 were also screened. Two novel DJ‐1 mutations, c.91−2A>G affecting splicing and c.319G>C causing Ala107Pro, were observed among patients with AAO of <31 years, suggesting that PD in a high fraction (>12%) of this group of Iranian patients may be due to mutations in DJ‐1. Mutations in PINK1 were not observed. Our results complement previous findings on LRRK2 mutations among Iranian PD patients. © 2010 Movement Disorder Society.
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DOI: 10.1002/mds.23417
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sort="Ronaghi, Mostafa" uniqKey="Ronaghi M" first="Mostafa" last="Ronaghi">Mostafa Ronaghi</name><affiliation><mods:affiliation>Illumina Inc., San Diego, California, USA</mods:affiliation></affiliation></author><author><name sortKey="Elahi, Elahe" sort="Elahi, Elahe" uniqKey="Elahi E" first="Elahe" last="Elahi">Elahe Elahi</name><affiliation><mods:affiliation>Department of Cell and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran, Iran</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran</mods:affiliation></affiliation><affiliation><mods:affiliation>Center of Excellence in Biomathematics, School of Mathematics, Statistics and Computer Science, College of Science, University of Tehran, Tehran, Iran</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno 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Fazlali</name><affiliation><mods:affiliation>Department of Cell and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran, Iran</mods:affiliation></affiliation></author><author><name sortKey="Banihosseini, Setareh Sadat" sort="Banihosseini, Setareh Sadat" uniqKey="Banihosseini S" first="Setareh Sadat" last="Banihosseini">Setareh Sadat Banihosseini</name><affiliation><mods:affiliation>Tehran University of Medical Sciences, Tehran, Iran</mods:affiliation></affiliation></author><author><name sortKey="Hosseini, Sayed Zgar" sort="Hosseini, Sayed Zgar" uniqKey="Hosseini S" first="Sayed-Rzgar" last="Hosseini">Sayed-Rzgar Hosseini</name><affiliation><mods:affiliation>Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran</mods:affiliation></affiliation></author><author><name sortKey="Kazemi, Mohammad Hossein" sort="Kazemi, Mohammad Hossein" uniqKey="Kazemi M" first="Mohammad Hossein" last="Kazemi">Mohammad Hossein Kazemi</name><affiliation><mods:affiliation>Tehran University of Medical Sciences, Tehran, Iran</mods:affiliation></affiliation></author><author><name sortKey="Shojaee, Seyedmehdi" sort="Shojaee, Seyedmehdi" uniqKey="Shojaee S" first="Seyedmehdi" last="Shojaee">Seyedmehdi Shojaee</name><affiliation><mods:affiliation>Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran</mods:affiliation></affiliation></author><author><name sortKey="Parsa, Khosro" sort="Parsa, Khosro" uniqKey="Parsa K" first="Khosro" last="Parsa">Khosro Parsa</name><affiliation><mods:affiliation>Department of Neurosurgery, Shohada Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</mods:affiliation></affiliation></author><author><name sortKey="Sadeghi, Homa" sort="Sadeghi, Homa" uniqKey="Sadeghi H" first="Homa" last="Sadeghi">Homa Sadeghi</name><affiliation><mods:affiliation>Department of Neurosurgery, Shohada Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</mods:affiliation></affiliation></author><author><name sortKey="Sina, Farzad" sort="Sina, Farzad" uniqKey="Sina F" first="Farzad" last="Sina">Farzad Sina</name><affiliation><mods:affiliation>Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran</mods:affiliation></affiliation></author><author><name sortKey="Rohani, Mohammad" sort="Rohani, Mohammad" uniqKey="Rohani M" first="Mohammad" last="Rohani">Mohammad Rohani</name><affiliation><mods:affiliation>Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran</mods:affiliation></affiliation></author><author><name sortKey="Shahidi, Gholam Li" sort="Shahidi, Gholam Li" uniqKey="Shahidi G" first="Gholam-Ali" last="Shahidi">Gholam-Ali Shahidi</name><affiliation><mods:affiliation>Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran</mods:affiliation></affiliation></author><author><name sortKey="Ghaemi, Nasser" sort="Ghaemi, Nasser" uniqKey="Ghaemi N" first="Nasser" last="Ghaemi">Nasser Ghaemi</name><affiliation><mods:affiliation>Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran</mods:affiliation></affiliation></author><author><name sortKey="Ronaghi, Mostafa" sort="Ronaghi, Mostafa" uniqKey="Ronaghi M" first="Mostafa" last="Ronaghi">Mostafa Ronaghi</name><affiliation><mods:affiliation>Illumina Inc., San Diego, California, USA</mods:affiliation></affiliation></author><author><name sortKey="Elahi, Elahe" sort="Elahi, Elahe" uniqKey="Elahi E" first="Elahe" last="Elahi">Elahe Elahi</name><affiliation><mods:affiliation>Department of Cell and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran, Iran</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran</mods:affiliation></affiliation><affiliation><mods:affiliation>Center of Excellence in Biomathematics, School of Mathematics, Statistics and Computer Science, College of Science, University of Tehran, Tehran, Iran</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</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="2011-01">2011-01</date><biblScope unit="volume">26</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="80">80</biblScope><biblScope unit="page" to="89">89</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">5095024BBCADF11BED09EDC7231209D265722FE0</idno><idno type="DOI">10.1002/mds.23417</idno><idno type="ArticleID">MDS23417</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DJ‐1</term><term>PINK1</term><term>PRKN</term><term>Parkinson's disease</term><term>alternative spicing</term><term>mutations</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We present results of mutation screening of PRKN gene in 93 Iranian Parkinson's disease (PD) patients with average age at onset (AAO) of 42.2 years. The gene was screened by direct sequencing and by a semi‐quantitative PCR protocol for detection of sequence rearrangements. Heterozygous rearrangements were tested by reverse transcription‐polymerase chain reaction (RT‐PCR). Nine different PRKN mutations were found. One of these, IVS9+1G>A, affects splicing and is novel. Two mutated PRKN alleles were observed in each of 6 patients whose average AAO was 25.7 years. Only 1 patient carried a single mutated allele and his AAO was 41 years. Among patients with AAO of <30 years, 31.3% had two mutated alleles, while only 2.6% with AAO of >30 years carried a PRKN mutation. Analysis of PRKN by RT‐PCR led to identification of a novel exon expressed in leukocytes of control and PD individuals. The alternatively spliced transcript if translated would code a protein without a RING Finger 2 domain. Its functional relevance remains to be shown. DJ‐I and PINK1 were also screened. Two novel DJ‐1 mutations, c.91−2A>G affecting splicing and c.319G>C causing Ala107Pro, were observed among patients with AAO of <31 years, suggesting that PD in a high fraction (>12%) of this group of Iranian patients may be due to mutations in DJ‐1. Mutations in PINK1 were not observed. Our results complement previous findings on LRRK2 mutations among Iranian PD patients. © 2010 Movement Disorder Society.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Farzaneh Ghazavi MS</name><affiliations><json:string>Department of Cell and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran, Iran</json:string></affiliations></json:item><json:item><name>Zeinab Fazlali MS</name><affiliations><json:string>Department of Cell and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran, Iran</json:string></affiliations></json:item><json:item><name>Setareh Sadat Banihosseini MD</name><affiliations><json:string>Tehran University of Medical Sciences, Tehran, Iran</json:string></affiliations></json:item><json:item><name>Sayed‐Rzgar Hosseini MS</name><affiliations><json:string>Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran</json:string></affiliations></json:item><json:item><name>Mohammad Hossein Kazemi MD</name><affiliations><json:string>Tehran University of Medical Sciences, Tehran, Iran</json:string></affiliations></json:item><json:item><name>Seyedmehdi Shojaee MS</name><affiliations><json:string>Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran</json:string></affiliations></json:item><json:item><name>Khosro Parsa MD</name><affiliations><json:string>Department of Neurosurgery, Shohada Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</json:string></affiliations></json:item><json:item><name>Homa Sadeghi MD</name><affiliations><json:string>Department of Neurosurgery, Shohada Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</json:string></affiliations></json:item><json:item><name>Farzad Sina MD</name><affiliations><json:string>Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran</json:string></affiliations></json:item><json:item><name>Mohammad Rohani MD</name><affiliations><json:string>Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran</json:string></affiliations></json:item><json:item><name>Gholam‐Ali Shahidi MD</name><affiliations><json:string>Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran</json:string></affiliations></json:item><json:item><name>Nasser Ghaemi PhD</name><affiliations><json:string>Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran</json:string></affiliations></json:item><json:item><name>Mostafa Ronaghi PhD</name><affiliations><json:string>Illumina Inc., San Diego, California, USA</json:string></affiliations></json:item><json:item><name>Elahe Elahi PhD</name><affiliations><json:string>Department of Cell and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran, Iran</json:string><json:string>Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran</json:string><json:string>Center of Excellence in Biomathematics, School of Mathematics, Statistics and Computer Science, College of Science, University of Tehran, Tehran, Iran</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>PRKN</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>DJ‐1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>PINK1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>alternative spicing</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>mutations</value></json:item></subject><articleId><json:string>MDS23417</json:string></articleId><language><json:string>eng</json:string></language><abstract>We present results of mutation screening of PRKN gene in 93 Iranian Parkinson's disease (PD) patients with average age at onset (AAO) of 42.2 years. The gene was screened by direct sequencing and by a semi‐quantitative PCR protocol for detection of sequence rearrangements. Heterozygous rearrangements were tested by reverse transcription‐polymerase chain reaction (RT‐PCR). Nine different PRKN mutations were found. One of these, IVS9+1G>A, affects splicing and is novel. Two mutated PRKN alleles were observed in each of 6 patients whose average AAO was 25.7 years. Only 1 patient carried a single mutated allele and his AAO was 41 years. Among patients with AAO of >30 years, 31.3% had two mutated alleles, while only 2.6% with AAO of >30 years carried a PRKN mutation. Analysis of PRKN by RT‐PCR led to identification of a novel exon expressed in leukocytes of control and PD individuals. The alternatively spliced transcript if translated would code a protein without a RING Finger 2 domain. Its functional relevance remains to be shown. DJ‐I and PINK1 were also screened. Two novel DJ‐1 mutations, c.91−2A>G affecting splicing and c.319G>C causing Ala107Pro, were observed among patients with AAO of >31 years, suggesting that PD in a high fraction (>12%) of this group of Iranian patients may be due to mutations in DJ‐1. Mutations in PINK1 were not observed. Our results complement previous findings on LRRK2 mutations among Iranian PD patients. © 2010 Movement Disorder Society.</abstract><qualityIndicators><score>7.832</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>6</keywordCount><abstractCharCount>1487</abstractCharCount><pdfWordCount>5169</pdfWordCount><pdfCharCount>34945</pdfCharCount><pdfPageCount>10</pdfPageCount><abstractWordCount>236</abstractWordCount></qualityIndicators><title>PRKN, DJ‐1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ‐1 mutations</title><genre><json:string>article</json:string></genre><host><volume>26</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>10</total><last>89</last><first>80</first></pages><issn><json:string>0885-3185</json:string></issn><issue>1</issue><subject><json:item><value>Research 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Zeinab Fazlali, and Setareh Sadat Banihosseini have contributed equally for this manuscript.</note><affiliation>Farzaneh Ghazavi, Zeinab Fazlali, and Setareh Sadat Banihosseini have contributed equally for this manuscript.</affiliation><affiliation>Department of Cell and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran, Iran</affiliation></author><author><persName><forename type="first">Zeinab</forename><surname>Fazlali</surname></persName><roleName type="degree">MS</roleName><note type="biography">Farzaneh Ghazavi, Zeinab Fazlali, and Setareh Sadat Banihosseini have contributed equally for this manuscript.</note><affiliation>Farzaneh Ghazavi, Zeinab Fazlali, and Setareh Sadat Banihosseini have contributed equally for this manuscript.</affiliation><affiliation>Department of Cell and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran, Iran</affiliation></author><author><persName><forename type="first">Setareh Sadat</forename><surname>Banihosseini</surname></persName><roleName type="degree">MD</roleName><note type="biography">Farzaneh Ghazavi, Zeinab Fazlali, and Setareh Sadat Banihosseini have contributed equally for this manuscript.</note><affiliation>Farzaneh Ghazavi, Zeinab Fazlali, and Setareh Sadat Banihosseini have contributed equally for this manuscript.</affiliation><affiliation>Tehran University of Medical Sciences, Tehran, Iran</affiliation></author><author><persName><forename type="first">Sayed‐Rzgar</forename><surname>Hosseini</surname></persName><roleName type="degree">MS</roleName><affiliation>Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran</affiliation></author><author><persName><forename type="first">Mohammad Hossein</forename><surname>Kazemi</surname></persName><roleName type="degree">MD</roleName><affiliation>Tehran University of Medical Sciences, Tehran, Iran</affiliation></author><author><persName><forename type="first">Seyedmehdi</forename><surname>Shojaee</surname></persName><roleName type="degree">MS</roleName><affiliation>Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran</affiliation></author><author><persName><forename type="first">Khosro</forename><surname>Parsa</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurosurgery, Shohada Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</affiliation></author><author><persName><forename type="first">Homa</forename><surname>Sadeghi</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurosurgery, Shohada Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</affiliation></author><author><persName><forename type="first">Farzad</forename><surname>Sina</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran</affiliation></author><author><persName><forename type="first">Mohammad</forename><surname>Rohani</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran</affiliation></author><author><persName><forename type="first">Gholam‐Ali</forename><surname>Shahidi</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran</affiliation></author><author><persName><forename type="first">Nasser</forename><surname>Ghaemi</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran</affiliation></author><author><persName><forename type="first">Mostafa</forename><surname>Ronaghi</surname></persName><roleName type="degree">PhD</roleName><affiliation>Illumina Inc., San Diego, California, USA</affiliation></author><author><persName><forename type="first">Elahe</forename><surname>Elahi</surname></persName><roleName type="degree">PhD</roleName><note type="correspondence"><p>Correspondence: School of Biology, College of Science, University of Tehran, Tehran Iran</p></note><affiliation>Department of Cell and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran, Iran</affiliation><affiliation>Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran</affiliation><affiliation>Center of Excellence in Biomathematics, School of Mathematics, Statistics and Computer Science, College of Science, University of Tehran, Tehran, Iran</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-01"></date><biblScope unit="volume">26</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="80">80</biblScope><biblScope unit="page" to="89">89</biblScope></imprint></monogr><idno type="istex">5095024BBCADF11BED09EDC7231209D265722FE0</idno><idno type="DOI">10.1002/mds.23417</idno><idno type="ArticleID">MDS23417</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2011</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>We present results of mutation screening of PRKN gene in 93 Iranian Parkinson's disease (PD) patients with average age at onset (AAO) of 42.2 years. The gene was screened by direct sequencing and by a semi‐quantitative PCR protocol for detection of sequence rearrangements. Heterozygous rearrangements were tested by reverse transcription‐polymerase chain reaction (RT‐PCR). Nine different PRKN mutations were found. One of these, IVS9+1G>A, affects splicing and is novel. Two mutated PRKN alleles were observed in each of 6 patients whose average AAO was 25.7 years. Only 1 patient carried a single mutated allele and his AAO was 41 years. Among patients with AAO of <30 years, 31.3% had two mutated alleles, while only 2.6% with AAO of >30 years carried a PRKN mutation. Analysis of PRKN by RT‐PCR led to identification of a novel exon expressed in leukocytes of control and PD individuals. The alternatively spliced transcript if translated would code a protein without a RING Finger 2 domain. Its functional relevance remains to be shown. DJ‐I and PINK1 were also screened. Two novel DJ‐1 mutations, c.91−2A>G affecting splicing and c.319G>C causing Ala107Pro, were observed among patients with AAO of <31 years, suggesting that PD in a high fraction (>12%) of this group of Iranian patients may be due to mutations in DJ‐1. Mutations in PINK1 were not observed. Our results complement previous findings on LRRK2 mutations among Iranian PD patients. © 2010 Movement Disorder Society.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson's disease</term></item><item><term>PRKN</term></item><item><term>DJ‐1</term></item><item><term>PINK1</term></item><item><term>alternative spicing</term></item><item><term>mutations</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2010-05-19">Received</change><change when="2010-08-02">Registration</change><change when="2011-01">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/5095024BBCADF11BED09EDC7231209D265722FE0/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="10"><doi origin="wiley" registered="yes">10.1002/mds.v26.1</doi><numberingGroup><numbering type="journalVolume" number="26">26</numbering><numbering type="journalIssue">1</numbering></numberingGroup><coverDate startDate="2011-01">January 2011</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="170" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.23417</doi><idGroup><id type="unit" value="MDS23417"></id></idGroup><countGroup><count type="pageTotal" number="10"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2010 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2010-05-19"></event><event type="manuscriptRevised" date="2010-06-27"></event><event 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number="4"></count><count type="tableTotal" number="3"></count><count type="referenceTotal" number="64"></count><count type="wordTotal" number="8095"></count></countGroup><titleGroup><title type="main" xml:lang="en"><i>PRKN</i>, <i>DJ‐1</i>, and <i>PINK1</i> screening identifies novel splice site mutation in <i>PRKN</i> and two novel <i>DJ‐1</i> mutations<link href="#fn2"></link></title><title type="short" xml:lang="en">Novel PRKN and DJ‐1 Mutations</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" noteRef="#fn1"><personName><givenNames>Farzaneh</givenNames><familyName>Ghazavi</familyName><degrees>MS</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1" noteRef="#fn1"><personName><givenNames>Zeinab</givenNames><familyName>Fazlali</familyName><degrees>MS</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af2" noteRef="#fn1"><personName><givenNames>Setareh Sadat</givenNames><familyName>Banihosseini</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Sayed‐Rzgar</givenNames><familyName>Hosseini</familyName><degrees>MS</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Mohammad Hossein</givenNames><familyName>Kazemi</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Seyedmehdi</givenNames><familyName>Shojaee</familyName><degrees>MS</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Khosro</givenNames><familyName>Parsa</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Homa</givenNames><familyName>Sadeghi</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Farzad</givenNames><familyName>Sina</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Mohammad</givenNames><familyName>Rohani</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Gholam‐Ali</givenNames><familyName>Shahidi</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Nasser</givenNames><familyName>Ghaemi</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au13" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Mostafa</givenNames><familyName>Ronaghi</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au14" creatorRole="author" affiliationRef="#af1 #af3 #af7" corresponding="yes"><personName><givenNames>Elahe</givenNames><familyName>Elahi</familyName><degrees>PhD</degrees></personName><contactDetails><email>elaheelahi@ut.act.ir</email><email>elahe.elahi@gmail.com</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="IR" type="organization"><unparsedAffiliation>Department of Cell and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran, Iran</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="IR" type="organization"><unparsedAffiliation>Tehran University of Medical Sciences, Tehran, Iran</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="IR" type="organization"><unparsedAffiliation>Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="IR" type="organization"><unparsedAffiliation>Department of Neurosurgery, Shohada Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="IR" type="organization"><unparsedAffiliation>Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="US" type="organization"><unparsedAffiliation>Illumina Inc., San Diego, California, USA</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="IR" type="organization"><unparsedAffiliation>Center of Excellence in Biomathematics, School of Mathematics, Statistics and Computer Science, College of Science, University of Tehran, Tehran, Iran</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson's disease</keyword><keyword xml:id="kwd2"><i>PRKN</i></keyword><keyword xml:id="kwd3"><i>DJ‐1</i></keyword><keyword xml:id="kwd4"><i>PINK1</i></keyword><keyword xml:id="kwd5">alternative spicing</keyword><keyword xml:id="kwd6">mutations</keyword></keywordGroup><supportingInformation><p> Additional Supporting Information may be found in the online version of this article. </p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23417:MDS_23417_sm_suppinfo"></mediaResource><caption>Supporting Information</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>We present results of mutation screening of <i>PRKN</i> gene in 93 Iranian Parkinson's disease (PD) patients with average age at onset (AAO) of 42.2 years. The gene was screened by direct sequencing and by a semi‐quantitative PCR protocol for detection of sequence rearrangements. Heterozygous rearrangements were tested by reverse transcription‐polymerase chain reaction (RT‐PCR). Nine different <i>PRKN</i> mutations were found. One of these, IVS9+1G>A, affects splicing and is novel. Two mutated <i>PRKN</i> alleles were observed in each of 6 patients whose average AAO was 25.7 years. Only 1 patient carried a single mutated allele and his AAO was 41 years. Among patients with AAO of <30 years, 31.3% had two mutated alleles, while only 2.6% with AAO of >30 years carried a <i>PRKN</i> mutation. Analysis of <i>PRKN</i> by RT‐PCR led to identification of a novel exon expressed in leukocytes of control and PD individuals. The alternatively spliced transcript if translated would code a protein without a RING Finger 2 domain. Its functional relevance remains to be shown. <i>DJ‐I</i> and <i>PINK1</i> were also screened. Two novel <i>DJ‐1</i> mutations, c.91−2A>G affecting splicing and c.319G>C causing Ala107Pro, were observed among patients with AAO of <31 years, suggesting that PD in a high fraction (>12%) of this group of Iranian patients may be due to mutations in <i>DJ‐1</i>. Mutations in <i>PINK1</i> were not observed. Our results complement previous findings on <i>LRRK2</i> mutations among Iranian PD patients. © 2010 Movement Disorder Society.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn2"><p>Potential conflict of interest: Nothing to report.</p></note><note xml:id="fn1"><p>Farzaneh Ghazavi, Zeinab Fazlali, and Setareh Sadat Banihosseini have contributed equally for this manuscript.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>PRKN, DJ‐1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ‐1 mutations</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Novel PRKN and DJ‐1 Mutations</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>,</title></titleInfo><name type="personal"><namePart type="given">Farzaneh</namePart><namePart type="family">Ghazavi</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Cell and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran, Iran</affiliation><description>Farzaneh Ghazavi, Zeinab Fazlali, and Setareh Sadat Banihosseini have contributed equally for this manuscript.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Zeinab</namePart><namePart type="family">Fazlali</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Cell and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran, Iran</affiliation><description>Farzaneh Ghazavi, Zeinab Fazlali, and Setareh Sadat Banihosseini have contributed equally for this manuscript.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Setareh Sadat</namePart><namePart type="family">Banihosseini</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Tehran University of Medical Sciences, Tehran, Iran</affiliation><description>Farzaneh Ghazavi, Zeinab Fazlali, and Setareh Sadat Banihosseini have contributed equally for this manuscript.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sayed‐Rzgar</namePart><namePart type="family">Hosseini</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mohammad Hossein</namePart><namePart type="family">Kazemi</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Tehran University of Medical Sciences, Tehran, Iran</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Seyedmehdi</namePart><namePart type="family">Shojaee</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Khosro</namePart><namePart type="family">Parsa</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurosurgery, Shohada Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Homa</namePart><namePart type="family">Sadeghi</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurosurgery, Shohada Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Farzad</namePart><namePart type="family">Sina</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mohammad</namePart><namePart type="family">Rohani</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gholam‐Ali</namePart><namePart type="family">Shahidi</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart 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Biomathematics, School of Mathematics, Statistics and Computer Science, College of Science, University of Tehran, Tehran, Iran</affiliation><description>Correspondence: School of Biology, College of Science, University of Tehran, Tehran Iran</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2011-01</dateIssued><dateCaptured encoding="w3cdtf">2010-05-19</dateCaptured><dateValid encoding="w3cdtf">2010-08-02</dateValid><copyrightDate encoding="w3cdtf">2011</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">4</extent><extent unit="tables">3</extent><extent unit="references">64</extent><extent unit="words">8095</extent></physicalDescription><abstract lang="en">We present results of mutation screening of PRKN gene in 93 Iranian Parkinson's disease (PD) patients with average age at onset (AAO) of 42.2 years. The gene was screened by direct sequencing and by a semi‐quantitative PCR protocol for detection of sequence rearrangements. Heterozygous rearrangements were tested by reverse transcription‐polymerase chain reaction (RT‐PCR). Nine different PRKN mutations were found. One of these, IVS9+1G>A, affects splicing and is novel. Two mutated PRKN alleles were observed in each of 6 patients whose average AAO was 25.7 years. Only 1 patient carried a single mutated allele and his AAO was 41 years. Among patients with AAO of <30 years, 31.3% had two mutated alleles, while only 2.6% with AAO of >30 years carried a PRKN mutation. Analysis of PRKN by RT‐PCR led to identification of a novel exon expressed in leukocytes of control and PD individuals. The alternatively spliced transcript if translated would code a protein without a RING Finger 2 domain. Its functional relevance remains to be shown. DJ‐I and PINK1 were also screened. Two novel DJ‐1 mutations, c.91−2A>G affecting splicing and c.319G>C causing Ala107Pro, were observed among patients with AAO of <31 years, suggesting that PD in a high fraction (>12%) of this group of Iranian patients may be due to mutations in DJ‐1. Mutations in PINK1 were not observed. Our results complement previous findings on LRRK2 mutations among Iranian PD patients. © 2010 Movement Disorder Society.</abstract><note type="content">*Potential conflict of interest: Nothing to report.</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>PRKN</topic><topic>DJ‐1</topic><topic>PINK1</topic><topic>alternative spicing</topic><topic>mutations</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><note type="content"> Additional Supporting Information may be found in the online version of this article.Supporting Info Item: Supporting Information - </note><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2011</date><detail type="volume"><caption>vol.</caption><number>26</number></detail><detail type="issue"><caption>no.</caption><number>1</number></detail><extent unit="pages"><start>80</start><end>89</end><total>10</total></extent></part></relatedItem><identifier type="istex">5095024BBCADF11BED09EDC7231209D265722FE0</identifier><identifier type="DOI">10.1002/mds.23417</identifier><identifier type="ArticleID">MDS23417</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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